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Article

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

European journal of medical genetics - 1 Sept 2020

Kloth Katja, Cozma Claudia, Bester Maxim, Gerloff Christian, Biskup Saskia, Zittel Simone

Abstract excerpt

GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive decline. Several neurological and non-neurological symptoms are associated with GBA2 mutations. An initial presentation with dystonia has not been reported so...

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Identifiers

PMID: 32590105
DOI: 10.1016/j.ejmg.2020.103992

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