Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

This study aimed to describe the clinical, genetic, and epidemiological features of Charcot-Marie-Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and neurophysiological data were obtained from electronic medical records and blood samples were used for genetic analyses. Multiplex ligation-dependent probe amplification was used to assess duplications/deletions in PMP22. Sanger sequencing of GJB1 was performed in cases of suspected demyelinating CMT. Targeted gene panel sequencing was used for the remaining negative demyelinating cases and all axonal CMT cases. The first decade of life was the most common period of disease onset. In all, 353 patients had demyelinating CMT, 39 had intermediate CMT, and 111 had axonal CMT. Pathogenic or likely pathogenic variants were identified in 197 index cases. The most common causative genes among probands were PMP22 (duplication) (n = 116, 58.88%), GJB1 (n = 23, 11.67%), MFN2 (n = 12, 6.09%), GDAP1 (n = 7, 3.55%), MPZ (n = 6, 3.05%), PMP22 (point mutation) (n = 6, 3.05%), NEFL (n = 3, 1.52%), SBF2 (n = 3, 1.52%), and SH3TC2 (n = 3, 1.52%). Other identified variants were ≤1% of index cases. This study provides further data on the frequency of CMT subtypes in a Brazilian clinical-based population and highlights the importance of rarer and previously undiagnosed variants in clinical practice.

[Frequency of ocular changes in patients with Hansen's disease living in a colony hospital]. / Freqüência das alterações oftalmológicas em pacientes com hanseníase residentes em hospital-colônia.

PURPOSE: To identify the frequency of ocular changes in patients with Hansen's disease, living in a colony hospital; to confirm the predilection for the anterior segment of the eye instead of the posterior segment. METHODS: Transversal study of 115 eyes of 58 in-patients at João Paulo II colony, Marituba-Pará, from August to October 1999. The epidemiologic data of this research were obtained from the patients' charts and from information obtained at clinical eye examination. All patients in this study were considered cured of Hansen's disease according to the Health Ministery criteria of cure. RESULTS: In 114 eyes (99.1%) ocular involvement was observed, the majority (77.2%) being the virchowian form. The most frequent ocular findings in the adnex were parcial madarosis (70.4%) and parcial eyebrow madarosis (59.1%). The most frequent ocular finding related to Hansen's disease was the decrease and/or absence of corneal sensitivity observed in 42.6% of the eyes, followed by paralytic midriasis (16.5%) found in the patients after surgery for cataract extraction; this finding was closely related to iris atrophy (8.7%), commonly found in these patients. CONCLUSION: The high prevalence of ocular involvement in Hansen patients, especially in virchowian form, indicates the need of complete assistance to these patients even after the resolution of the disease.