New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
Corral-Juan, Marc (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Casquero, Pilar (Hospital Mateu Orfila)
Giraldo-Restrepo, Natalia (Hospital Mateu Orfila)
Laurie, Steven (Centro Nacional de Análisis Genómico (Barcelona))
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Mateo-Montero, Raidili Cristina (Hospital Mateu Orfila)
Ispierto, Lourdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Vilas Rolán, Dolores (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Tolosa, Eduardo (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Volpini, Víctor (Institut d'Investigació Biomèdica de Bellvitge)
Álvarez, Ramiro (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Sanchez, Ivelisse (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Universitat Autònoma de Barcelona

Date:	2022
Abstract:	Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination. Affected individuals presented with horizontal and vertical gaze-evoked nystagmus and hyperreflexia as initial clinical signs, and a variable age of onset ranging from 12 to 60 years. Neurophysiological studies showed moderate axonal sensory polyneuropathy with altered sympathetic skin response predominantly in the lower limbs. We identified the c. 1877C.
Grants:	Ministerio de Economía y Competitividad PI14/00136 Ministerio de Economía y Competitividad PI14/01159 Instituto de Salud Carlos III PI17/00534 Instituto de Salud Carlos III CP14/00029
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Spinocerebellar ataxia ; SAMD9L ; SCA49 ; Mitochondria ; Zebrafish
Published in:	Brain Communications, Vol. 4 (february 2022) , ISSN 2632-1297

DOI: 10.1093/braincomms/fcac030
PMID: 35310830

21 p, 2.0 MB

Supplementary material 42 p, 3.3 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Research articles
Articles > Published articles