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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
BEFREE |
Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia.
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29127012 |
2018 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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.
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28655586 |
2017 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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.
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25772097 |
2015 |
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Dystonia Disorders
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0.100 |
Biomarker
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group |
BEFREE |
Rather, isolated dystonia as seen in DYT4 might be an exceptional feature occurring in the heterogeneous phenotypic spectrum due to TUBB4A mutations.
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26318963 |
2015 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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).
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25643588 |
2015 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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.
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24262166 |
2014 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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.
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24598712 |
2014 |
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Dystonia Disorders
|
0.100 |
Biomarker
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group |
BEFREE |
Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia.
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24952478 |
2014 |
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Dystonia Disorders
|
0.100 |
GeneticVariation
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group |
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.
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24785942 |
2014 |
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Dystonia Disorders
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0.100 |
AlteredExpression
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group |
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.
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23582646 |
2013 |
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Dystonia Disorders
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0.100 |
GeneticVariation
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group |
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.
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23595291 |
2013 |
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Dystonia Disorders
|
0.100 |
Biomarker
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group |
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.
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23424103 |
2013 |
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Dystonia Disorders
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0.100 |
Biomarker
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group |
BEFREE |
DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci.
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21956287 |
2011 |