Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

1997 ◽  
Vol 10 (6) ◽  
pp. 443-450 ◽  
Author(s):  
H Rouger ◽  
E LeGuern ◽  
N Birouk ◽  
R Gouider ◽  
S Tardieu ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Motor Nerve ◽  
Motor Nerve Conduction ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Conduction Velocities ◽  
C 32 ◽  
Tooth Disease

scholarly journals Study of a Family with Progressive Ataxia, Tremor and Severe Distal Amyotrophy

1980 ◽  
Vol 7 (4) ◽  
pp. 345-349 ◽  
Author(s):  
J. Bouchard ◽  
P. Bedard ◽  
R. Bouchard
Keyword(s):  
Nerve Conduction ◽  
Motor Nerve ◽  
Elevated Serum ◽  
Sensory Nerve ◽  
Cerebellar Atrophy ◽  
Large Family ◽  
Charcot Marie Tooth ◽  
Progressive Development ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

SUMMARY:We have studied a large family of which seven members suffer from a progressive disease with onset in the first decade. The first symptoms were gait ataxia and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of Charcot-Marie-Tooth disease. In four patients a postural tremor which was relieved by pharmacological agents was also evident in the limbs or head.Cerebellar atrophy was confirmed on CT scan. Motor nerve conduction velocities were in the low normal range, while sensory nerve conduction was markedly decreased. All patients had impaired proprioception and vibration sense. The laboratory investigation revealed a normal CSF protein level and elevated serum bilirubin.The patients reported in this study apparently suffer from an original recessive form of spinal and olivocerebellar degeneration associated with a neuronal form of Charcot-Marie-Tooth disease.

Modelization of Motor Nerve Conduction Velocities for Charcot-Marie-Tooth (Type-1) Patients

1996 ◽  
Vol 36 (4) ◽  
pp. 224-228 ◽  
Author(s):  
F.G. Sturtz ◽  
F. Chauvin ◽  
E. Ollagnon-Roman ◽  
M. Bost ◽  
P. Latour ◽  
...  
Keyword(s):  
Nerve Conduction ◽  
Motor Nerve ◽  
Motor Nerve Conduction ◽  
Charcot Marie Tooth ◽  
Conduction Velocities ◽  
Tooth Type

Homozygous Expression of a Dominant Gene Causing Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease)

1974 ◽  
Vol 23 (S1) ◽  
pp. 217-220 ◽  
Author(s):  
H. Warner Kloepfer ◽  
James M. Killian
Keyword(s):  
Clinical Features ◽  
Nerve Conduction ◽  
Peripheral Nerves ◽  
Muscular Atrophy ◽  
Dominant Gene ◽  
Conduction Time ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Peroneal Muscular Atrophy ◽  
Tooth Disease

This study involves the presentation of a kindred from Southwestern Louisiana showing 66 individuals who were heterozygous for a rare dominant gene for a type of Charcot-Marie-Tooth disease with hypertrophy of peripheral nerves. Two marriages between heterozygotes resulted in the occurrence of five homozygous offsprings. Clinical features of these previously undescribed homozygotes are compared to the clinical features of the classic type of heterozygote. The value of using nerve-conduction time to detect the asymptomatic heterozygote for Charcot-Marie-Tooth disease is discussed.

Case 22

2018 ◽  
Author(s):  
Bashar Katirji
Keyword(s):  
Differential Diagnosis ◽  
Clinical Practice ◽  
Nerve Conduction ◽  
Nerve Conduction Studies ◽  
Genetic Defects ◽  
Neurological Manifestations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Tooth Disease

Charcot-Marie-Tooth disease is the most common inherited neuropathy encountered in clinical practice. The disorder encompasses a large number of subtypes; most share common neurological manifestations. Charcot-Marie-Tooth disease is often subdivided into many subtypes based on pathophysiological or inheritance patterns. There are demyelinating and axonal types, as well as dominant, recessive, or X-linked forms. This case presents a typical patient with Charcot-Marie-Tooth disease and highlights the neurological findings. This is followed by emphasis on the findings seen on nerve conduction studies showing the differences between the demyelinating, axonal, and intermediate types. A list of the known genetic defects described so far is presented. A working and practical differential diagnosis and algorithm is also suggested.

P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

2011 ◽  
Vol 21 (9-10) ◽  
pp. 688-689
Author(s):  
M. Guijarro ◽  
P. Blanco-Arias ◽  
J. Pardo ◽  
C. Concheiro-Álvarez ◽  
B. San Millán ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
New Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012266
Author(s):  
Hongge Wang ◽  
Matthew Davison ◽  
Kathryn Wang ◽  
Tai-he Xia ◽  
Katherine M. Call ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Schwann Cells ◽  
Motor Nerve ◽  
Disease Type ◽  
Class Iii ◽  
Protein Biomarkers ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Compound Muscle Action Potentials ◽  
Tooth Disease

Objective:To determine if microRNA’s (miR) are elevated in the plasma of individuals affected by the inherited peripheral neuropathy Charcot-Marie-Tooth Disease, type 1A (CMT1A), miR profiling was employed to compare control and CMT1A plasma.Methods:We performed a screen of CMT1A and control plasma samples to identify miRs that are elevated in CMT1A using next generation sequencing, followed by validation of selected miRs by quantitative PCR, and correlation with protein biomarkers and clinical data: Rash-modified CMT Examination and Neuropathy Scores (CMTES-R and CMTNS-R), ulnar compound muscle action potentials (CMAP), and motor nerve conduction velocities (MNCV).Results:After an initial pilot screen, a broader screen confirmed elevated levels of several muscle-associated miRNAs (miR1, -133a, -133b, and -206, known as myomiRs) along with a set of miRs that are highly expressed in Schwann cells of peripheral nerve. Comparison to other candidate biomarkers for CMT1A (e.g. Neurofilament L, NfL) measured on the same sample set shows a comparable elevation of several miRs (e.g. miR133a, -206, -223) and ability to discriminate cases from controls. NfL levels were most highly correlated with miR133a. In addition, the putative Schwann cell miRs (e.g. miR223, -199a, -328, -409, and -431) correlate with the recently described TMPRSS5 protein biomarker that is most highly expressed in Schwann cells and also elevated in CMT1A plasma.Conclusions:These studies identify a set of miRs that are candidate biomarkers for clinical trials in CMT1A. Some of the miRs may reflect Schwann cell processes that underlie the pathogenesis of the disease.Classification of Evidence:This study provides Class III evidence that a set of plasma miRs are elevated in patients with CMT1A.

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