Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and 99mTc-ECD brain perfusion SPECT findings

Journal of the Neurological Sciences

Volumn 290, Issue 1-2, 2010, Pages 172-176

  Doi, Hiroshi ^a   Koyano, Shigeru ^a   Miyatake, Satoko ^a   Matsumoto, Naomichi ^a   Kameda, Tomoaki ^a   Tomita, Atsuko ^a   Miyaji, Yosuke ^a   Suzuki, Yume ^a   Sawaishi, Yukio ^b   Kuroiwa, Yoshiyuki ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b AKITA UNIVERSITY   (Japan)

Author keywords

Hallervorden Spatz syndrome; Neurogenetics; Neuroimaging; Pantothenate kinase 2 gene (PANK2); Pantothenate kinase associated neurodegeneration

Indexed keywords

CYSTEINE ETHYL ESTER TC 99M; ISOLEUCINE; PANTOTHENATE KINASE 2; SERINE;

ADULT; ARTICLE; BRAIN PERFUSION; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

AGE OF ONSET; AMINO ACID SUBSTITUTION; BRAIN; CEREBROVASCULAR CIRCULATION; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; GLYCOPEPTIDES; HUMANS; ISOLEUCINE; MALE; MIDDLE AGED; MUTATION; ORGANOTECHNETIUM COMPOUNDS; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SERINE; SIBLINGS; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 74849138848     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.11.008     Document Type: Article

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