Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Berta Alemany, María Isabel Alvarez-Mora, Bernard Brais, Maria Buxó, Berta Campos, Jordi Corral, Matt C Danzi, Laura de Jorge, Marie-Josée Dicaire, Josep Gardenyes, David Genís, Henry Houlden, Fabián Márquez, Joan Martínez Sancho, Maria Obon, David Pellerin, Lluís Ramió I Torrentà, Laia Rodriguez-Revenga, Carles Roig, Héctor San Nicolás, Víctor Volpini, Stephan Zuchner

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Germany : Journal of neurology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 741069

BACKGROUND: To describe the epidemiology, clinical features, degree of disability and genetic characteristics of a cohort of patients with a vestibulo-cerebellar ataxia of very late onset (LOVCA). METHODS: We analysed the clinical, radiological, and genetic characteristics of a cohort of 50 patients with LOVCA. Where possible, patients were followed over the full course of the disease, including clinical, and molecular genetic analysis of genes known to cause episodic ataxia. RESULTS: Ten patients are familial and 40 sporadic. Forty-three patients had an episodic onset, with episodes of gait ataxia characterized especially by sudden instability with downbeat nystagmus, visual symptoms, dizziness, and falls. Progression began on average 1.5 years after the onset of episodes. Of the patients followed over the full course of the disease, 87% became disabled. Women seem more prone to disability than men. An FGF14 intronic GAA repeat expansion was found in 61% of patients with available DNA. The prevalence of LOVCA is 5.03/10 CONCLUSION: LOVCA appears after the age of 50 and commonly leads to an inability to stand up and walk. The disease caused mild atrophy only in half of the patients and few changes were observed by MRI. The most common genetic cause was a heterozygous GAA expansion in FGF14 (SCA27B). One third of our patients have no aetiological diagnosis. Disability seems to be a result of the complete loss of the vestibulocerebellar function, which is presumably a result of degeneration of this system.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH