Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2014 Apr 8;82(14):1227-30. doi: 10.1212/WNL.0000000000000294. Epub 2014 Mar 5.

Pathogenic variants in TUBB4A are not found in primary dystonia.

Author information

1
From the Departments of Neurology and Anatomy & Neurobiology (S.R.V., J.X., M.S.L.), University of Tennessee Health Science Center, Memphis, TN; Bastian Voice Institute (R.W.B.), Downers Grove, IL; Clinic for Child Neurology and Psychiatry (D.M.), Medical Faculty University of Belgrade, Serbia; and New York Center for Voice and Swallowing Disorders (A.B.), NY.

Abstract

OBJECTIVE:

To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with "whispering dysphonia" from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia.

METHODS:

High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia.

RESULTS:

No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study.

CONCLUSION:

The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.

PMID:
24598712
PMCID:
PMC4001202
DOI:
10.1212/WNL.0000000000000294
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Support Center