Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

L. Blumkin, A. Halevy, D. Ben-Ami-Raichman, D. Dahari, A. Haviv, C. Sarit, D. Lev, M.S. van der Knaap, T. Lerman-Sagie, E. Leshinsky-Silver

Research output: Contribution to journalArticleAcademicpeer-review

34 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)107-113
Issue number2
Publication statusPublished - 2014

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