MovDisordV3, Main, Exploration, bibRecord, 000167

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Identifieur interne : 000167 ( Main/Exploration ); précédent : 000166; suivant : 000168

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Auteurs : Dahlia Kancheva [Belgique] ; Teodora Chamova [Bulgarie] ; Velina Guergueltcheva [Bulgarie] ; Vanio Mitev [Bulgarie] ; Dimitar N. Azmanov [Australie] ; Luba Kalaydjieva [Australie] ; Ivailo Tournev [Bulgarie] ; Albena Jordanova [Belgique]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.

RBID : pubmed:25772097

Abstract

Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with atrophy of the basal ganglia and cerebellum syndrome to the clinically milder dystonia type 4. The presence of movement abnormalities was considered the common hallmark of these disorders.

DOI: 10.1002/mds.26196
PubMed: 25772097

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with atrophy of the basal ganglia and cerebellum syndrome to the clinically milder dystonia type 4. The presence of movement abnormalities was considered the common hallmark of these disorders.</div>
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Movement Disorders (revue)

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

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Abstract

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