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Article

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

BMC neurology - 7 Nov 2020

Manini Arianna, Bocci Tommaso, Migazzi Alice, Monfrini Edoardo, Ronchi Dario, Franco Giulia, De Rosa Anna, Sartucci Ferdinando, Priori Alberto, Corti Stefania, Comi Giacomo Pietro, Bresolin Nereo, Basso Manuela, Di Fonzo Alessio

Abstract excerpt

BACKGROUND: Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by postural instability, incoordination of gait, features of cerebellar dysfunction and pyramidal signs. CASE PRESENTATION: Here we report the case of an Italian patient...

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Identifiers

PMID: 33160304
DOI: 10.1186/s12883-020-01964-1
PMCID: PMC7648302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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