Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG

Clinical Neurology and Neurosurgery

Volumn 111, Issue 2, 2009, Pages 211-215

  Miura, Shiroh ^a   Nakagawara, Hiroko ^a   Kaida, Hayato ^a   Sugita, Minoru ^a   Noda, Kazuhito ^a   Motomura, Kyoko ^b   Ohyagi, Yasumasa ^b   Ayabe, Mitsuyoshi ^a   Aizawa, Hisamichi ^a   Ishibashi, Masatoshi ^a   Taniwaki, Takayuki ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

Depression; Facial palsy; Focal dystonia; Gly128Asp (G128D); Point mutation; Protein kinase C gene (PRKCG); Retinal degeneration; SPECT; Spinocerebellar ataxia type 14 (SCA14); Vertigo

Indexed keywords

ASPARAGINE; BOTULINUM TOXIN; CYSTEINE ETHYL ESTER TC 99M; ETIZOLAM; GLYCINE; PROTEIN KINASE C GAMMA;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CERVICAL DYSTONIA; CLINICAL FEATURE; FEMALE; GENE MUTATION; HUMAN; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PHENOTYPE; POSITIONAL VERTIGO; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPINOCEREBELLAR DEGENERATION;

ADULT; AMINO ACID SUBSTITUTION; BRAIN; CEREBROVASCULAR CIRCULATION; DIAGNOSIS, DIFFERENTIAL; FEMALE; GAIT ATAXIA; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN KINASE C; SPINOCEREBELLAR ATAXIAS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; VERTIGO; YOUNG ADULT;

EID: 58349116613     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2008.09.013     Document Type: Article

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