Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait.
|
23424103 |
2013 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so-called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia.
|
23595291 |
2013 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
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.
|
25772097 |
2015 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
However, three of these putative new genes still await independent confirmation (TUBB4/DYT4; CIZ1/DYT23; ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia.
|
24262166 |
2014 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci.
|
21956287 |
2011 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia.
|
29127012 |
2018 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome).
|
25643588 |
2015 |
Dystonia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Consistent with H-ABC's clinical presentation, TUBB4A is highly expressed in neurons, and a recent report has shown that an N-terminal alteration is associated with a heritable dystonia.
|
23582646 |
2013 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Rather, isolated dystonia as seen in DYT4 might be an exceptional feature occurring in the heterogeneous phenotypic spectrum due to TUBB4A mutations.
|
26318963 |
2015 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
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.
|
24598712 |
2014 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
It is highly likely that there is a disease continuum associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and cerebellum and dystonia type 4 are the extremes.
|
24785942 |
2014 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia.
|
24952478 |
2014 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.
|
28655586 |
2017 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
CLINVAR |
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
|
24785942 |
2014 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
|
24526230 |
2014 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Consistent with H-ABC's clinical presentation, TUBB4A is highly expressed in neurons, and a recent report has shown that an N-terminal alteration is associated with a heritable dystonia.
|
23582646 |
2013 |