Author(s): Blumkin L, Halevy A, BenAmiRaichman D, Dahari D, Haviv A, , Blumkin L, Halevy A, BenAmiRaichman D, Dahari D, Haviv A,
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Abstract 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). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, behavioral problems, and evidence of permanent, incomplete myelination associated with progressive cerebellar atrophy. Whole exome sequencing revealed a novel E410K de novo heterozygous mutation in the TUBB4A gene. The clinical and radiological picture of our patient is different from the classic phenotype; thus, it expands the phenotypic variation of TUBB4A-gene-related disorders.
This article was published in Neurogenetics
and referenced in Journal of Neurology & Neurophysiology