| Autor: |
Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Journal of neurology, neurosurgery, and psychiatry. 93(1) |
| ISSN: |
1468-330X |
| Popis: |
Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants inIn this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.The majority of patients presented in adulthood with motor-predominant and lower limb-predominant symptoms and the average age of onset was 31.0±15.1 years. A prominent feature was the development of proximal weakness early in the course of the disease. The disease progressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of the patients (53%) needed to use a wheelchair on average 24.1 years after symptom onset. Furthermore, 40% of patients had evidence of early ankle plantarflexion weakness, a feature which is observed in only a handful of CMT subtypes. Neurophysiological studies and MRI of the lower limbs confirmed the presence of a non-length-dependent neuropathy in the majority of patients.All families harboured heterozygous frameshift variants in the last exon ofThis phenotype-genotype study highlights the unusual phenotype of CMT2CC, which is more akin to spinal muscular atrophy rather than classic CMT. Furthermore, the study will enable more informative discussions on the natural history of the disease and will aid in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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