Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum

•SCA 34 is a rare variant of hereditary ataxia with distinct dermatological features.•Four loci of causative mutation in exon 4 of ELOVL4 gene reported till date.•We report significant cognitive impairment in a locus of ELOVL4 gene mutation.•Reiterates the role of cerebellum in cognition.

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical neurology and neurosurgery 2021-11, Vol.210, p.106983-106983, Article 106983
Hauptverfasser:	Mukherjee, Soumava, Roy, Manoj, Ghosh, Sinjan, Guha, Gautam, Prasad Saha, Shankar, Dalal, Ashwin
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Ataxia Brain damage Calnexin Cerebellum Cerebellum - diagnostic imaging Cognition Disorders - diagnostic imaging Cognition Disorders - genetics Cognitive ability ELOVL4 gene Eye Proteins - genetics Fibroblasts Gait Humans Magnetic resonance imaging Male Membrane Proteins - genetics Mutation Mutation - genetics Neurology Patients Peripheral neuropathy Spinocerebellar Ataxias - diagnostic imaging Spinocerebellar Ataxias - genetics Stratum corneum
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Beschreibung
Zusammenfassung:	•SCA 34 is a rare variant of hereditary ataxia with distinct dermatological features.•Four loci of causative mutation in exon 4 of ELOVL4 gene reported till date.•We report significant cognitive impairment in a locus of ELOVL4 gene mutation.•Reiterates the role of cerebellum in cognition.
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2021.106983