Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
Parkinsonism Relat Disord
; 124: 107012, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38762926
ABSTRACT
BACKGROUND:
Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are also observed. These are rare disorders, and data from diverse populations remains limited. We report seven Indian cases with dystonia phenotype related to TUBB4A mutation. CASES Among these seven patients, age at onset ranged from 5 to 48 years. Five patients had cranio-cervical onset of dystonia. One patient had prominent parkinsonism with dystonia. Patients responded well to botulinum toxin injected for laryngeal, cervical and jaw dystonia. The patient with parkinsonism responded well to levodopa, albeit with development of dyskinesias. Apart from the common p.Arg2Gly variant in three patients with DYT-TUBB4A, other variants included p.Arg262Pro, p.Arg39Cys and p.Asp245Asn.CONCLUSIONS:
We report the first collection of cases with TUBB4A mutation from India. We expand the phenotype to include levodopa-responsive parkinsonism. Indian patients, consistent with global literature, harbor prominent adductor dysphonia, cervical and jaw dystonia, which responds well to botulinum treatment.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Tubulin
Limits:
Adolescent
/
Adult
/
Child
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Child, preschool
/
Female
/
Humans
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Male
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Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Parkinsonism & related disorders
/
Parkinsonism Relat Disord
/
Parkinsonism relat. disord
Journal subject:
NEUROLOGIA
Year:
2024
Type:
Article