title: Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
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.
authors: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
authors: Lubov
authors: L
authors: Blumkin
authors: Ayelet
authors: A
authors: Halevy
authors: Dominique
authors: D
authors: Ben-Ami-Raichman
authors: Dvir
authors: D
authors: Dahari
authors: Ami
authors: A
authors: Haviv
authors: Cohen
authors: C
authors: Sarit
authors: Dorit
authors: D
authors: Lev
authors: Marjo S
authors: MS
authors: van der Knaap
authors: Tally
authors: T
authors: Lerman-Sagie
authors: Esther
authors: E
authors: Leshinsky-Silver
mesh_terms: D002648:Child; D006579:Heterozygote; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D014404:Tubulin / Q000235:genetics*
chemical_list: C582076:TUBB4A protein, human; D014404:Tubulin