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- W2894558468 abstract "Objective: To analyze and describe atypical presentations of CMT 4C. Background: CMT4C is associated with both nonsense and missense mutations in the gene encoding the SH3 domain and tetratricopeptide repeats (SH3TC2), which is essential for peripheral nerve myelination. The clinical spectrum of CMT4C is suggested to be broad with likely mutation-specific variation. Previous reports have suggested that common features of CMT4C include thoracic spine scoliosis , moderate to severe neuropathy, and cranial nerve deficits such as cranial nerves 3, 7, 8, 12. Here we report four patients with atypical phenotypes associated with novel and rare SH3TC2 mutations and review previous published cases in the literature. Design/Methods: We present a case series comprised of four patients in whom CMT 4C is caused by either a novel or a rare mutation in the SH3TC2 gene. We focus on clinical presentation and electrodiagnostic analysis. Previous reported cases have also been analyzed. Results: Four unrelated patients with CMT 4C carrying disease causing SH3TC2 mutations were identified. Nerve conduction velocities were all in the demyelinating range and all had scoliosis. Age of onset of symptoms was at birth in three out of our four cases. Some cases presented with features atypical of classic CMT: nystagmus, dysarthria, attacks of weakness and sensory loss, and proximal limb girdle weakness. Conclusions: Our results suggest that certain mutations in the SH3TC2 gene can present with clinical features atypical of classic presentations of CMT. These atypical features have been described previously, and our results confirm the diagnostic challenge associated with CMT 4C. Study Supported by: This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (NINDS), NIH (AM). The work was supported by a grant from the National Institute of Neurological Disorders and Stroke (MES) and Office of Rare Diseases (MES, U54NS065712), Muscular Dystrophy Association (MES), Charcot-Marie-Tooth Association (MES), and MDA Clinical Research Training grant (NUJ). Disclosure: Dr. Jerath has nothing to disclose. Dr. Grunseich has nothing to disclose. Dr. Baloui has nothing to disclose. Dr. Nnamdi-Emeratom has nothing to disclose. Dr. Schindler has nothing to disclose. Dr. Chrast has nothing to disclose. Dr. Shy has nothing to disclose. Dr. Mankodi has nothing to disclose." @default.
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- W2894558468 date "2017-04-18" @default.
- W2894558468 modified "2023-09-23" @default.
- W2894558468 title "Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)" @default.
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