This scientific commentary refers to ‘TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment’, by Delplanque . (doi: 10.1093/brain/awu202).
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| http://dx.doi.org/10.1093/brain/awu217 | DOI Listing |
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A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Eur J Neurol
August 2021
Department of Neuroscience, Università Cattolica del Sacro Cuore, Facoltà di medicina e Chirurgia, Rome, Italy.
Background And Purpose: Spinocerebellar ataxia 21 (SCA21) is a rare autosomal dominant neurodegenerative disorder caused by TMEM240 gene mutations. To date, SCA21 has been reported only in a limited number of families worldwide. Here, we describe clinical and molecular findings in five additional SCA21 patients from four unrelated families, diagnosed through a multicentre next generation sequencing-based molecular screening project on a large cohort of patients with degenerative and congenital ataxias.
View Article and Find Full Text PDFThis scientific commentary refers to ‘TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment’, by Delplanque . (doi: 10.1093/brain/awu202).
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