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Abstract Details

Hereditary Motor Sensory Neuropathy: Case Report and Update Genetic Implications
Neuromuscular and Clinical Neurophysiology (EMG)
P12 - Poster Session 12 (11:45 AM-12:45 PM)
11-021
To explore the clinical and genetic implications of a variant of unknown significance (VUS) in the neurofilament light chain (NEFL) gene, observed in three familial cases of Charcot-Marie-Tooth (CMT) disease.
Charcot-Marie-Tooth disease, also known as hereditary motor sensory neuropathy, encompasses a wide spectrum of inherited peripheral neuropathies. Genetic mutations in over 80 genes, including NEFL, contribute to the pathogenesis of CMT. NEFL mutations disrupt neuronal cytoskeleton function, leading to axonal degeneration and neuropathy. The variant p.Glu330_Glu337dup in NEFL was identified in three members of a family, presenting a phenotypic variability suggestive of possible pathogenicity.
Clinical presentations, genetic testing, and outcomes of three patients carrying the same NEFL VUS were examined. Patients exhibited varying onset, symptom severity, and disease progression, ranging from childhood to late adulthood. Genetic analysis was performed using Invitae testing services.

All three patients shared the NEFL VUS, with symptoms consistent with CMT2E. Patient 1 experienced gradual progression with significant mobility decline in later life, while Patient 3 had early-onset symptoms. Patient 2 presented an intermediate phenotype, underscoring the variability of clinical presentations within the family. 
This case series highlights the potential pathogenic role of the NEFL VUS (p.Glu330_Glu337dup) in CMT. The findings support the need for further studies to establish the clinical significance of this variant and its potential role in CMT diagnosis and management.
Authors/Disclosures
Rolando M. Cordoves-Feria, MD
PRESENTER 		No disclosure on file
Mohammad R. Ghani, MD Dr. Ghani has nothing to disclose.
Rebecca Lightman Miss Lightman has nothing to disclose.
Martin E. Brown, MD (University of Louisville) Dr. Brown has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argenx. Dr. Brown has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argenx. Dr. Brown has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Brown has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Brown has received personal compensation in the range of $100,000-$499,999 for serving as a Neurologist with University of Louisville.
Zeng Y. Wang, MD, PhD, FAAN (ULP Neurology) Dr. Wang has nothing to disclose.