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This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. The variant was associated with painful and numb feet with diminished sensation to pinprick. This study suggests that GDAP1 variants may be associated with very mild, predominantly sensory Charcot–Marie–Tooth disease, warranting continuing research for this type of the disease.

ObjectivesTo analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).MethodsCombined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature.ResultsFive new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a total of 21 sural nerve biopsies and ‘onion bulb’ formations and/or thin myelin sheaths were observed in 14 (67%) of them. The neurophysiological phenotype was broad but most patients with E90K and N98S had upper limb motor conduction velocities <38 m/s. Age of onset was ≤3 years in 25 cases. Pyramidal tract signs were described in 13 patients and 7 patients were initially diagnosed with or tested for inherited ataxia. Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI.Conclusions NEFL-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical–genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT.

Introduction: This study evaluates driving ability in those with Charcot-Marie-Tooth Disease Type 1A, a hereditary peripheral neuropathy. Methods: Individuals with Charcot-Marie-Tooth Disease Type 1A (n = 18, age = 42 ± 7) and controls (n = 19; age = 35 ± 10) were evaluated in a driving simulator. The Charcot-Marie-Tooth Neuropathy Score version 2 was obtained for individuals. Rank Sum test and Spearman rank correlations were used for statistical analysis. Results: A 74% higher rate of lane departures and an 89% higher rate of lane deviations were seen in those with Charcot-Marie-Tooth Disease Type 1A than for controls (p = 0.005 and p < 0.001, respectively). Lane control variability was 10% higher for the individual group and correlated with the neuropathy score (rS = 0.518, p = 0.040), specifically sensory loss (rS = 0.710, p = 0.002) and pinprick sensation loss in the leg (rS = 0.490, p = 0.054). Discussion: Driving simulator assessment demonstrated more lane control errors in those with Charcot-Marie-Tooth Disease Type 1A, which correlated with lower extremity sensory loss. There was no significant difference in reported motor vehicle accidents.

Objective To compare the degree of discomfort caused by nerve conduction studies (NCS) versus needle electromyography (EMG), and to determine what factors predict aversion to one test or the other. Methods Two hundred patients underwent both EMG and NCS, and were asked to indicate which test was more uncomfortable. Responses were then correlated with demographic information, testing characteristics, and medical histories to identify any notable associations. Results Of the 200 patients, 58.5% (117) of the patients found the NCS more uncomfortable than EMG. Sixty‐one percent (11/18) of the younger patients (18–29 years old) found EMG more uncomfortable (P = 0.08), whereas 68% (40/59) of the older patients (age greater than 60 years old) found NCS more uncomfortable (P = 0.05). Sixty‐seven percent (14/21) of the patients whose BMI was less than 22 kg/m2 rated EMG as more uncomfortable (P = 0.01). Sixty‐nine percent (27/39) of the patients whose BMI was greater than or equal to 38 found the NCS more uncomfortable (P = 0.02). A positive correlation existed between NCS discomfort and number of nerves tested. 67% (35/52) of the patients with polyneuropathy found NCS more uncomfortable. Conclusion Nerve conduction studies are more uncomfortable than needle EMG in the majority of patients, and predictions regarding which test will be more uncomfortable for a given patient are possible. Nerve conduction studies are more uncomfortable than needle EMG for most patients, and predictions regarding which test will be more uncomfortable for a given patient are possible.