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2004
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DESCRIZIONE
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Un nuovo studio
indica che la vitamina C ferma la progressione favorisce l’inversione del danno nella
Charcot-Marie Tooth dei topini cavia.
JD Griffith, M.s. Fondazione CMT
Uno
studio francese pubblicato in aprile 2004 da MEDICINE NATURE indica che
l'acido ascorbico (vitamina C) ferma la progressione della malattia e
sembra invertire la Charcot-Marie- Tooth-1A (Cmt-1a) nei topi cavia.
Essendo prudentemente ottimisti, gli autori concludono che, "poiché
l'acido ascorbico è stato già approvato dalla FDA per altre indicazioni
cliniche, offre la possibilità terapeutica immediata per i pazienti con la
malattia".
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TESTO
ORIGINALE
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A Promising New Study Shows that Vitamin C Halts the
Progression-and Even Reverses-Charcot-Marie-Tooth in Mice
JD Griffith, M.S. - CMT Foundation
A French study in the April 2004 issue of Nature Medicine shows that
ascorbic acid (Vitamin C) halts the progression of and appears to reverse
Charcot-Marie-Tooth-1A (CMT-1A) in a mouse model of CMT-1A. It also
dramatically extended the lives of these transgenic mice (mice with the
human gene for peripheral myelin protein 22 [PMP22], the protein CMT-1A
patients make too much of).
So, what does this mean to the CMT patient? While we applaud these French
scientists for their excellent work, we must remember the adage "we
have cured cancer a thousand times in the mouse." Being cautiously
optimistic, the authors conclude that, "as ascorbic acid has already
been approved by the FDA for other clinical indications, it offers
immediate therapeutic possibility for patients with the disease." This
is good news.
How Much Should I Take? And How
Often Should I Take It?
Before you CMT-1Aers run out to Sam's Club and load up on Vitamin C
tablets, please consider the following: The jury is still out on the safety
of large doses of ascorbic acid, so, check with your doctor before
beginning a Vitamin C blitz. Second, do your own research on the
Internet-there are lots of good health-related sites, including the Mayo
Clinic's: http://www.mayoclinic.com/index.cfm.
Our little furry friends were given the human dose equivalent of 4g once a
week; that computes to 4g/7day=.57g/day or 570 mg per day, not a huge
amount. The daily recommended dietary allowance (RDA) for vitamin C is 75
mg for women, 90 mg for men and the typical daily vitamin supplement
contains less than 100 mg. According to the Mayo Clinic, the "maximum
daily intake (from all sources) unlikely to pose risk of side effects for
adults is 2,000 mg/day. The Institute of Medicine states that there are no
established benefits for consuming Vitamin C in doses higher than the RDA.
Other research has suggested that 200 mg/day is the optimal dose."
When it comes to frequency, a massive dose once a week doesn't make sense,
if only because we don't know the equivalent of a mouse week in human
terms. Also, the average person lives 80 years: the average mouse two
years, so don't expect to start jogging tomorrow.
I spoke to CMT-1A friend, in Pittsburgh PA., who has been taking 2000 mg of
ascorbic acid per day for 20 years, thanks to Nobel Prizewinner Linus
Pauling's enthusiastic advocacy of Vitamin C as a cure-all. Her CMT has
slowly progressed but without a control we cannot evaluate the vitamin's
effectiveness. A case can be made for holding off on self-medication and
participating in a controlled study, when and if they become available.
Because of the variability in the progression of the disease a large
well-designed study would be required to get statistically valid results.
Another unsettling question is; because vitamin C is readily available,
would you be willing, for the benefit of the CMT community, to participate
in a double blind (neither the doctor or the patient knows who is receiving
the drug or the placebo) controlled experiment when you know you may be the
control and receiving a placebo?
An Experiment of Our Own
If you plan on incorporating Vitamin C into your health program, it would
be beneficial to you (and others) if you would document your dosage and
observations-both subjective (how you feel, your aches and pains etc.) and
objective (how long it takes to complete repeatable task, the diameter of
your calf etc.)-and report back on your progress
here. This information
will help us compile our own database of information and see for ourselves
just what impact Vitamin C has on people with CMT.
Below, please find an abstract of the
study:
Ascorbic acid treatment corrects the
phenotype of a mouse model of Charcot-Marie-Tooth disease
The French researchers, in a series of
experiments, fed CMT-1A transgenic mice large doses of ascorbic acid with
impressive results. The experimental mice develop symptoms of CMT by one
month and were given large dose of ascorbic acid weekly beginning at two
months of age. The vitamin C treatment "resulted in substantial amelioration
of the CMT-1A phenotype [the observable properties of an organism, i.e.
muscle weakness, poor balance etc.], and reduced the expression of PMP22 to
a level below what is necessary to induce the disease phenotype."
Most CMT-1A (the most common form of CMT) is the consequence of an extra
copy of a gene on chromosome 17 that codes for the protein PMP22. In nerves
outside the brain and spinal chord, the myelin sheath is formed by Schwann
cell membranes, which wrap in concentric layers around the nerve cell. Because
of the duplication of the PMP22 gene (3 copies of the gene instead of 2),
an excess of PMP22 is produced in the Schwann cells, which disrupts the
normal formation and compaction of myelin, the fatty substance that
surrounds nerve cells. In this paper the researchers show, "that
treatment with ascorbic acid at least partially corrects the locomotive
pathology of CMT-1A mice by promoting the remylination of the peripheral
axon (nerve) fibers, probably by decreasing the expression level of PMP-22."
Ascorbic acid, an antioxidant, is water-soluble; excess concentrations in
the blood in humans are rapidly secreted in the urine. The scientists chose
ascorbic acid as a candidate for CMT research because it is necessary for
axon myelination outside the body, there is a link between ascorbic acid
and femoral (thigh) neuropathies, plus it is readily available and has
prior regulatory approval. An interesting feature of this experiment is
that the large dose was administered weekly, as opposed to daily.
A Stronger, Healthier Mouse
The mouse model of CMT-1A, created by
the authors, contains the gene for human PMP22 and the severity of the CMT
symptoms in these mice had previously been shown to be dependent on the
cellular levels of PMP22. The ascorbic acid treatment was administered
weekly to two- month-old mice that exhibited severe CMT symptoms. The
weekly dose of ascorbic acid (1.12 mg for a 20 g mouse) corresponds to a
human dose of 57 mg/kg (26mg/lb) or 4000 mg (4 g) for a 154 lb adult human.
This is close to the maximum dose suggested for human Vitamin C deficiency
(scurvy). The mice were tested before treatment and then monthly for a
variety of motor functions and compared to placebo treated CMT-1A mice. The
results after 3 months were dramatic, not only did the treated mice perform
much better than the untreated mice but in some tests their performance
actually improved. The indication is that muscle strength actually
increased during treatment. The treated mice also "enjoyed" a
near normal average lifespan of nearly 20 months as opposed to 6 months for
the placebo and untreated transgenic mice. Of interest, when the
researchers doubled the dose from 1.12 mg to 2.5 mg the motor performance
was not significantly improved.
The microscopic examination of sciatic nerve fibers showed striking
differences in the number of myelinated fibers and the thickness of myelin
in the treated and untreated mice. The placebo treated mice had 25%
myelinated axons (nerve cell), the treated mice had 70% myelinated axons
and the normal mice had 95% myelination. The myelin thickness was
"abnormally thin" in the placebo, but returned to relatively
normal thickness in the treated mice. The authors suggest that
"ascorbic acid may reactivate the myelination process that is inhibited
by the over expression of PMP22. Remylination may underlie the ascorbic
acid-induced correction of the CMT-1A phenotype."
To gain a better understanding of how ascorbic acid works the investigators
extracted RNA from the sciatic nerves of treated and untreated mice and
found a tenfold greater concentration of PMP22RNA in the untreated mice.
What does this mean? Remember what Nobel Laureate Francis Crick, who with
J. D. Watson, discovered the structure of DNA, said, "DNA makes RNA,
RNA makes protein and proteins makes us." The DNA for human PMP22
inserted into the DNA of these mice is making one-tenth the amount of
PMP22RNA and therefore less of the offending protein. The mechanism of
action is unclear, but they suggest that vitamin C may inhibit the stimulation
of the expression of the gene for PMP22 by a common compound, cyclic AMP.
In the Future
The authors ask two questions to be
addressed in future studies. First, are the positive results of the study the
result of the large single weekly dose or does the ascorbic acid remain at
high levels in the nervous tissue of the mice? Second, is the action of
vitamin C the result of its antioxidant properties or some other activity?
The authors say, "it is likely that the effect of ascorbic acid on the
organism result not only from its antioxidant properties, but also from
direct control of the expression of certain genes."
We hope to see more promising research and information into this promising
discovery. One of the researchers, Pauline Noack-Fraissignes, received
support from the Charcot-Marie-Tooth Association
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DESCRIZIONE
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La malattia di
Charcot-Marie-Tooth (CMT) di tipo 4B
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NOTIZIA
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Roma,
3 dicembre 2004
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COMUNICATO
STAMPA - RICERCA TELETHON:
ECCO
PERCHÉ LA MALATTIA DÀ AI NERVI
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Ricercatori Telethon chiariscono i meccanismi
molecolari di una forma
della malattia di
Charcot-Marie-Tooth. Ora è più facile pensare a un rimedio
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L’unione fa la forza. E i risultati si
vedono. Ricercatori finanziati da Telethon
hanno capito che cosa scatena la malattia di Charcot-Marie-Tooth (CMT) di
tipo 4B, la forma
recessiva che, insieme alle altre forme della neuropatia, rappresenta la
malattia ereditaria più frequente del sistema nervoso periferico, colpendo
circa 1 persona su 2.500. Sui nervi si
deposita troppa mielina, il
nastro isolante che riveste i nervi periferici prodotto dalle cosiddette cellule di Schwann: queste si
allineano lungo i bracci delle cellule del sistema nervoso periferico e li
avvolgono isolandoli per consentire la trasmissione veloce dell’impulso
elettrico. Ma quando la mielina è in eccesso si dispone in modo caotico
facendo diminuire la velocità di conduzione nervosa. La scoperta è stata
pubblicata sul prestigioso The
Journal of Cell Biology*.
Per arrivare a
questa risposta ci sono voluti diversi anni, ma adesso la strada sembra solo
in discesa. Nel 1989 alcuni
ricercatori avevano intuito che cosa non andava nella malattia, ma solo
oggi, a 15 anni di
distanza, Alessandra Bolino,
ricercatore dell’Istituto Telethon
Dulbecco che lavora al Dibit-Istituto
San Raffaele di Milano, in stretta collaborazione con Lawrence Wrabetz presso lo stesso
Istituto, hanno chiarito il meccanismo molecolare alla base della malattia.
Anche i topolini si possono ammalare di CMT4B e questo ha
consentito ai ricercatori di vedere da vicino quali sono gli effetti della
malattia nelle cellule, nei tessuti e negli organi danneggiati. Alessandra
Bolino, sotto l’egida di Telethon, ha scoperto quattro anni fa che il
difetto all’origine della malattia risiede in Mtmr2, un gene per
una fosfatasi, un enzima che sottrae dei gruppi chimici (fosfati) da alcune
proteine per controllarne l’attività. I topolini sono più fortunati
dell’uomo, perché la malattia è meno grave e ciò ha permesso di guardare
nel modello animale quello che succede ai nervi malati. E i risultati non si
sono fatti attendere, primo tra tutti il ruolo di Mtmr2 nel difetto a carico della mielina, ma
non solo: si è visto per la prima volta nelle cellule di Schwann che la
proteina prodotta da Mtmr2 interagisce con
una “collega” chiamata Dlg1, una proteina
che aiuta la cellula a orientarsi nello spazio; senza Mtmr2 e quindi senza il contributo di Dlg1, le cellule sono disorientate, come se
stessero a testa in giù, e la mielina si dispone in modo disordinato. E
ancora, l’assenza del gene responsabile causa difetti nella spermatogenesi,
il processo che genera spermatozoi, come avviene anche nell’uomo.
Commenta la Bolino: “Il
difetto alla base della neuropatia sta in un enzima e questo faciliterà
l’approccio terapeutico; grazie a questo modello di neuropatia siamo
riusciti a capire la biologia della malattia, le molecole coinvolte e
quello che succede ai nervi malati”.
Il progetto ha usufruito anche di
finanziamenti da parte della
Compagnia di San Paolo e di SMA
supermercati, ed è un esempio di ricerca che porta un contributo
decisivo alla comprensione di una malattia genetica. Nonostante i notevoli
risultati già raggiunti, il lavoro continua col massimo impegno: prossima
tappa capire come l’eccesso di mielina intorno ai nervi ne impedisce il
funzionamento.
******************
*Bolino A et al. J. Cell Biol. Nov 2004; 167:711-21
Per informazioni Dott.ssa
Alessandra Bolino: Tel 348/7117598.
E-mail: bolino.alessandra@hsr.it
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DESCRIZIONE
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Neuropatia
periferica nei pazienti trattati con Leflunomide
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NOTIZIA
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Martedì 21 Settembre 2004, 10:05
Tratto
da Farmacovigilanza.net
La Leflunomide (Arava) è un farmaco impiegato nel trattamento
dell’artrite reumatoide.
Ricercatori del CDER / Drug Safety dell’FDA negli Usa, hanno analizzato le
caratteristiche cliniche, il decorso e l’outcome (esito) della neuropatia
periferica di nuova insorgenza dopo trattamento con Leflunomide.
All’FDA sono giunte 80 segnalazioni. Di queste, il 61% riguardava le donne. L’età media dei pazienti
era di 62 anni.
I sintomi della neuropatia periferica sono insorti in media dopo 6 mesi di impiego della Leflunomide (range: 3 giorni - 3 anni ).
Dal test elettrodiagnostico compiuto su 37 pazienti è emersa una polineuropatia sensorio
motoria, o sensoria, o assonale distale.
I pazienti che hanno interrotto l’assunzione di Leflunomide entro 30 giorni dell’insorgenza dei sintomi della neuropatia
hanno presentato una maggiore probabilità di miglioramento o di guarigione
rispetto a coloro che invece hanno continuato ad assumere la Leflunomide
per più lunghi periodi ( p < 0,001 ).
Secondo i ricercatori dell’FDA la Leflunomide è associata in alcuni casi a
neuropatia periferica.
Fonte: Clin Pharmacol Ther
Per
ulteriori informazioni visita Xagena.it
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DESCRIZIONE
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La chirurgia dell’obesità può
causare neuropatia periferica
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NOTIZIA
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Lunedì 18 Ottobre 2004, 12:52
Tratto da
MedicinaOnline.org
Un significativo numero di persone che si sottopongono a chirurgia
dell’obesità possono andare incontro a grave neuropatia periferica.
Lo studio, compiuto presso la Mayo Clinic di Rochester negli Usa, ha preso
in esame 435 pazienti che si
erano sottoposti a chirurgia dell’obesità.
Il 16% ( n = 71 ) di questi pazienti ha sviluppato
neuropatia periferica.
La causa alla base dello sviluppo della neuropatia è ritenuta essere la
malnutrizione, probabilmente una deficienza di vitamina B12. I pazienti che sono andati incontro a
neuropatia periferica sono stati quelli che hanno perso più peso corporeo,
ed in tempi più rapidi.
Inoltre i pazienti che sviluppano sintomi neurologici, tendono ad avere una
maggiore incidenza di nausea, diarrea, e di rapido svuotamento gastrico.
La neuropatia in alcuni casi può condurre a disabilità permanente.
Fonte: Neurology
Per ulteriori informazioni visita Xagena.it
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DESCRIZIONE
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Studi istologici sulla
malattia di Charcot-Marie-Tooth tipo I con un test non invasivo
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TESTO ORIGINALE
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Preliminary Study of Large and Small Peripheral Nerve Fibers in
Charcot-Marie-Tooth Disease, Type I
Hanson P, Deltombe - Am J Phys Med Rehabil 1998; 77(1):45-8
Histologic studies of Charcot-Marie-Tooth disease, type I, show a contrast
between the lesions of myelinated fibers and the normality of unmyelinated
fibers. Conventional electrophysiologic tests only demonstrate the
alteration of myelinated fibers but do not study unmyelinated fiber
function. We present routine clinical tests that are easily available and
effective for the evaluation of small unmyelinated fibers: thermal
threshold testing for warmth to evaluate small C unmyelinated somatic
fibers and sympathetic skin responses to evaluate small C unmyelinated
sympathetic fibers. Five unrelated patients with a diagnosis of
Charcot-Marie-Tooth disease, type I, confirmed by biopsy were investigated.
All of these patients showed marked reduction or absence of motor and
sensory conduction velocities and severe denervation at needle examination.
By contrast, thermal threshold testing for warmth and sympathetic skin
responses were normal, confirming the normality of small C unmyelinated
somatic and sympathetic fibers. We conclude that these noninvasive tests
are helpful in the diagnosis of Charcot-Marie-Tooth disease, type I.
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DESCRIZIONE
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ELETTROMIOGRAFIA
LARINGEALE
Nel tipo II C della
malattia di Charcot-Marie-Tooth, di tipo assonale, presenta debolezza del
diaframma e paralisi del cavo vocale. E’ stata usata l'elettromiografia
laringeale per studiare un paziente con questo disordine. Questa tecnica è
utile nella diagnosi del tipo II di malattia del Charcot-Marie-Tooth.
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TESTO ORIGINALE
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Laryngeal Electromyographic Findings in Charcot-Marie-Tooth Disease
Type II - .Dray TG, Robinson LR, Hillel AD - Arch Neurol 1999; 56(7):863-5
Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy
that exhibits progressive muscular atrophy in the limbs, beginning with the
lower extremities. It is now understood to be a heterogeneous group of
disorders that can be differentiated both clinically and genetically. In
Charcot-Marie-Tooth disease type II C, axonal neuropathy, diaphragm
weakness, and vocal cord paralysis are described within kindreds. We used
laryngeal electromyography to study a patient with this disorder. This technique
has potential in the diagnosis of Charcot-Marie-Tooth disease type II.
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DESCRIZIONE
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Neuropatia
ereditaria: i vari geni responsabili e loro suddivisione in tipi e
sottotipi
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TESTO ORIGINALE
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Inherited Neuropathies: From Gene to Disease - Keller MP, Chance PF
Brain Pathol 1999; 9(2):327-41
Inherited disorders of peripheral nerves represent a common group of
neurologic diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is
a genetically heterogeneous group of chronic demyelinating polyneuropathies
with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B)
and to another unknown autosome (CMT1C).
CMT1A is
most often associated with a tandem 1.5-megabase
(Mb) duplication in chromosome 17p11.2-12, or
in rare patients may result from a point mutation in the peripheral myelin
protein-22 (PMP22) gene. CMT1B is
associated with point mutations in the myelin protein zero (P0 or MPZ) gene. The molecular defect in CMT1C is unknown. X-linked Charcot-Marie-Tooth
neuropathy (CMTX), which has clinical features similar to CMT1, is associated with mutations in the connexin32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is
an axonal neuropathy, also of undetermined cause. One form of CMT2 maps to chromosome 1p36 (CMT2A), another to chromosome 3p (CMT2B)
and another to 7p
(CMT2D).
Dejerine-Sottas disease (DSD), also called hereditary motor and sensory
neuropathy type III (HMSNIII), is a severe, infantile-onset demyelinating polyneuropathy
syndrome that may be associated with point mutations in either the PMP22 gene or the P0 gene and shares considerable clinical and
pathological features with CMT1.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an
autosomal dominant disorder that results in a recurrent, episodic
demyelinating neuropathy. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. CMT1A and
HNPP are reciprocal duplication/deletion syndromes originating from unequal
crossover during germ cell meiosis. Other rare forms of demyelinating
peripheral neuropathies map to chromosome 8q, 10q and
11q.
Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) is an
autosomal dominant disorder causing painful, recurrent brachial
plexopathies and maps to chromosome 17q25.
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DESCRIZIONE
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Caso clinico di una frattura
patologica della tibia nella CMT – siamo a rischio maggiore nelle fratture
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TESTO ORIGINALE
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Quintart
C, Baillon JM, Libotte M - Acta Orthop Belg 1999; 65(1):105-8
The authors report a case of pathologic
fracture of the distal tibia associated with Charcot-Marie-Tooth disease.
Pathologic fracture was visible four weeks after initial pain. Treatment
consisted in a short leg walking cast for six weeks. Charcot-Marie-Tooth
disease is a slowly progressive neurogenic muscular atrophy affecting the
distal parts of the lower limbs. The muscular atrophy is responsible for
radiographic bony changes including narrowing of the shaft with thinning of
the cortex, rarefaction at the end of the long bones and relative widening
of the medullary cavity. Pathologic fractures in neuromuscular disease are
rare; a few cases have been reported following application of very small
forces. The authors draw attention to the increased risk of pathologic
fractures in patients with neuromuscular disease. Ambulatory treatment of
fractures should be used whenever possible; prolonged immobilization could
result in further loss of function
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DESCRIZIONE
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Correlazione tra
apatia e stanchezza cronica nelle neuropatie
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TESTO ORIGINALE
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Apathy and Hypersomnia Are Common Features of Myotonic Dystrophy -
Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ - J Neurol
Neurosurg Psychiatry 1998; 64(4):510-5
Objectives: Myotonic dystrophy is a disease characterised by myotonia and
muscle weakness. Psychiatric disorder and sleep problems have also been
considered important features of the illness. This study investigated the
extent to which apathy, major depression, and hypersomnolence were present.
The objective was to clarify if the apathy reported anecdotally was a
feature of CNS involvement or if this was attributable to major depression,
hypersomnolence, or a consequence of chronic muscle weakness.
Methods: These features were studied in 36 adults with non-congenital myotonic dystrophy
and 13
patients with Charcot-Marie-Tooth disease. By using patients with
Charcot-Marie-Tooth disease as a comparison group the aim was to control
for the disabling effects of having an inherited chronic neurological
disease causing muscle weakness. Standardised assessment instruments were
used wherever possible to facilitate comparison with other groups reported
in the medical literature.
Results: There was no excess of major depression on cross sectional
analysis in these patients with mild myotonic dystrophy. However, apathy
was a prominent feature of myotonic dystrophy in comparison with a
similarly disabled group of patients with Charcot-Marie-Tooth disease (clinician
rated score; Mann Whitney U test, p=0.0005). Rates of hypersomnolence were greater
in the myotonic dystrophy group, occurring in 39% of myotonic dystrophy patients, but there was
no correlation with apathy.
Conclusion: These data suggest that apathy and hypersomnia are independent
and common features of myotonic dystrophy. Apathy cannot be accounted for
by clinical depression or peripheral muscle weakness and is therefore
likely to reflect CNS involvement. These features of the disease impair
quality of life and may be treatable.
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DESCRIZIONE
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Analisi sulla
tossicità del farmaco Vincristine per i CMT – si tratta di un farmaco usato
nelle neoplasie tumorali
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TESTO INTEGRALE
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Charcot-Marie-Tooth Disease Type I Diagnosed in a 5-Year-Old Boy After Vincristine Neurotoxicity,
Resulting in Maternal Diagnosis - Olek MJ, Bordeaux B, Leshner RT
J Am Osteopath Assoc 1999; 99(3):165-7
Charcot-Marie-Tooth disease type 1,
also known as hereditary motor sensory neuropathy type 1, is an uncommon autosomal dominant disease that
causes destruction of peripheral nerves with a varied clinical course, but
often leads to muscle weakness. If the peroneal muscle is involved, the
patient may develop a characteristic slapping gait. The dose-limiting side
effect of the chemotherapeutic agent vincristine is usually its
neurotoxicity. We report the case of a 5-year-old patient with leukemia who developed an
acute polyneuropathy after treatment with vincristine. Charcot-Marie-Tooth
disease type 1 was
diagnosed in the patient and, subsequently, in his mother only after
vincristine toxicity was observed.
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DESCRIZIONE
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Indagine e studi
ortopedici sulla patologia
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TESTO ORIGINALE
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The Charcot Joint
Zwipp H, Rammelt S, Dahlen C, Reichmann H - Orthopade 1999; 28(6):550-8
Charcot foot in its original sense is equivalent to stage 4 of hereditary motor and sensory neuropathy
(HMSN) which is known as Charcot-Marie-Tooth disease since 1886. This entity, which can be subdivided into 3 groups including subgroups, predominantly
begins during childhood and progresses slowly. The first symptom, often
unnoticed by the patient for a long period, is weakness of the intrinsic
foot muscles with consecutive hammer-toe formation and mobile pes cavus.
Progredient atrophy of the peroneal, extensor, tibialis posterior and
finally triceps surae muscles leads to fixed pes cavus varus excavatus with
severe varus deformity of the hindfoot, secondary varus position of the
talus at the ankle level and subsequent arthrosis of the medial
compartment. Permanent varus deformity of the ankle almost invariably leads
to stress fractures of the malleoli because of repetitive microtrauma
(stage 5 of
HMSN). Early detection of the disease with nerve conduction studies at
clinical suspicion allows tibialis posterior transfer, correctional
osteotomy of the hindfoot or arthrodesis of Chopart's or Lisfranc's joint
and can postpone or prevent the otherwise inevitable triple arthrodesis
which has a less favorable long-term prognosis. At stage 4 (manifest Charcot foot) and stage 5 (neuropathic fracture of the ankle) a
reorientating ankle arthrodesis is advocated, with additional subtalar
pathology correctional double arthrodesis becomes necessary. In diabetic
arthropathy of the ankle (Type IV according to Sanders and Frykberg), which
is often referred to as "Charcot Ankle", tibiocalcanear
arthrodesis is indicated. In case of supervening infection or extensive
necrosis a modified Pirogoff amputation is carried out as a salvage
procedure. Doubled periods of non weight-bearing, immobilization and brace
protection of the ankle help to reduce the frequently observed implant
failure in both forms of osteoarthropathy. In addition to stable implants
retrograde calcaneotalotibial transfixation with a Steinmann pin may help
to protect the achieved result despite prolonged bone consolidation.
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DESCRIZIONE
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Particolare tipo di
anestesia per il parto in una donna di 25 anni, con insufficienza
respiratoria e CMT
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TESTO ORIGINALE
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Anaesthesia for Caesarean Section in a Patient With
Charcot-Marie-Tooth Disease
Reah G, Lyons GR, Wilson RC - Anaesthesia 1998; 53(6):586-8
We describe the management of a 25-year-old
primigravida with severe respiratory insufficiency secondary to Charcot-Marie-Tooth
disease type I scheduled for Caesarean section. Incremental subarachnoid
anaesthesia via a microcatheter was utilised. Mother and baby made an
uneventful recovery and were discharged home on the tenth postoperative
day.
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DESCRIZIONE
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Indagine sulla
relazione che esiste tra forza muscolare ed abilità funzionali
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TESTO ORIGINALE
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Quadriceps Strength and Timed Motor Performances in Myotonic Dystrophy,
Charcot-Marie-Tooth Disease, and Healthy Subjects
Lindeman E, Leffers P, Reulen J, et al. - Clin Rehabil 1998; 12(2):127-35
Background And Purpose: The leading hypothesis was that a relation exists
between muscular strength and functional abilities. Therefore a study was
undertaken to quantify such a relationship in a population of subjects with
different muscular strengths. This population consisted of healthy subjects
and subjects with slowly progressive neuromuscular disorders.
Methods: The study included 33
patients with myotonic dystrophy, 29
patients with Charcot-Marie-Tooth disease and 20 healthy subjects. Isokinetic and isometric knee
torques were measured on an isokinetic dynamometer at various velocities.
The following activities were timed: descending and ascending stairs,
rising from a chair, rising from supine, walking at natural speed and
walking at maximum speed.
Results: The population covered a wide range of the variables: whereas the
healthy subjects performed best (i.e. had the highest knee torques and
performed the activities most quickly), the myotonic dystrophy group
included the subjects with the lowest knee torques. The natural logarithms
(In) of isokinetic extension torque at the highest velocity (120 degrees/s) and those of the time taken to
perform the described activities showed the highest levels of correlation.
It was found that after correction for age and weight, 56% (walking at natural speed) to 73% (descending stairs) of the variance in the In
of the time taken could be attributed to the variance in the In of the
torques.
Conclusion And Discussion: A strong relation between quadriceps strength
and timed motor performances were demonstrated. The impact of strength
reduction on time taken was most obvious in subjects with considerably
decreased strength. Therefore, it is feasible to try to influence muscle
strength in patients with relevant strength reduction in order to achieve
better functional ability.
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DESCRIZIONE
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Un caso
di displasia associate alla neuropatia CMT
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TESTO ORIGINALE
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Charcot-Marie-Tooth Disease Associated With Hip Dysplasia: A Case
Report
Cucuzzella TR, Guille JT, MacEwen GD - Del Med J 1996; 68(6):305-7
A 31-year-old
woman with a known history of hip dysplasia was found to have
Charcot-Marie-Tooth disease following abnormal conduction studies done at
the time of surgery. Physical examination in this patient was otherwise
normal, and the diagnosis of Charcot-Marie-Tooth disease had not been
previously considered. This report demonstrates the importance of keeping
in mind the association between hip dysplasia and Charcot-Marie-Tooth
disease.
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DESCRIZIONE
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Dalla
Corea un caso di una famiglia con
sordità associate alla patologia
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TESTO ORIGINALE
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Neuromuscul Disord 2004 May;14(5):325-8 (ISSN: 0960-8966)
Joo
IS; Ki CS; Joo SY; Huh K; Kim JW
Department of Neurology, Ajou University School of Medicine, Suwon, South
Korea.
Charcot-Marie-Tooth
disease with deafness is a clinically distinct entity and is associated
with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic
phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant
fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype
and leading to a T23R missense mutation
in PMP22.
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DESCRIZIONE
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Studi
radiologici sul nervo craniale
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TESTO ORIGINALE
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Charcot-Marie-Tooth
Disease: Extensive Cranial Nerve Involvement on CT and MR Imaging [In
Process Citation]
AJNR Am J Neuroradiol 2004 Mar;25(3):494-7 (ISSN: 0195-6108)
Aho
TR; Wallace RC; Pitt AM; Sivakumar K
Section of Neuroradiology, St. Joseph's Hospital and Medical Center, Barrow
Neurologic Institute, Phoenix, AZ. Division of Neurology, Neuromuscular Diseases
Section, St. Joseph's Hospital and Medical Center, Barrow Neurologic
Institute, Phoenix, AZ.
Summary: We report a case of
genetically verified Charcot-Marie-Tooth disease in which the
patient had cranial nerve symptoms. CT and MR imaging demonstrated
enlargement of several cranial nerves, as well as their skull-base
foramina, with faint contrast material enhancement identified.
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DESCRIZIONE
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Una famiglia
dell’Aquila (Italia) con lesioni cerebrali e CMT – L’ipotesi è un
meccanismo di auto-immunità
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TESTO ORIGINALE
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Brain
White Matter Lesions in an Italian Family with Charcot-Marie-Tooth
Disease [epub ahead of print] [Record Supplied By Publisher]
Eur Neurol 2004 Apr 1;51(3):168-171 (ISSN: 0014-3022)
Sacco
S; Totaro R; Bastianello S; Marini C; Carolei A
Department of Neurology, University of L'Aquila, L'Aquila, Italy.
Type 1A, the most common form of Charcot-Marie-Tooth
(CMT1A) disease, is
characterized by demyelination of the peripheral nervous system. So far,
only a few cases of the disease with concomitant brain white matter lesions
have been described. We report an Italian family with CMT1A disease, consisting of the proband and 4 affected members, presenting with concomitant
brain white matter lesions at magnetic resonance imaging. The association
is particularly fascinating and might depend on an autoimmune mechanism,
not yet clarified. Copyright 2004 S. Karger AG,
Basel.
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