Huntington's disease-like and ataxia syndromes: Identification of a family with a de novo SCA17/TBP mutation

Parkinsonism and Related Disorders

Volumn 16, Issue 1, 2010, Pages 12-15

  Bech, Sara ^a   Petersen, Thor ^b   Nørremølle, Anne ^a   Gjedde, Albert ^b   Ehlers, Lise ^b   Eiberg, Hans ^a   Hjermind, Lena E ^a,c   Hasholt, Lis ^a   Lundorf, Erik ^b   Nielsen, Jørgen E ^a,c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c Rigshospitalet   (Denmark)

Author keywords

HDL; HDL4; Putaminal rim hyperintensity; SCA; SCA17; TBP

Indexed keywords

ADENOSINE; CYTIDINE; GUANOSINE; NUCLEIC ACID BINDING PROTEIN; SPINOCEREBELLAR ATAXIA 17 PROTEIN; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; APRAXIA; ARTICLE; BALANCE DISORDER; BRAIN ATROPHY; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CONTROLLED STUDY; DYSARTHRIA; DYSMETRIA; DYSTONIA; FAMILY; FEMALE; GENE MUTATION; HUMAN; HUNTINGTON DISEASE LIKE SYNDROME; MEMORY DISORDER; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SPEECH DISORDER; TRINUCLEOTIDE REPEAT;

ADULT; ATAXIA; COGNITION DISORDERS; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; HUNTINGTON DISEASE; MAGNETIC RESONANCE IMAGING; MALE; POSITRON-EMISSION TOMOGRAPHY; TATA-BOX BINDING PROTEIN; TEMPORAL LOBE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 74149089305     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2009.06.006     Document Type: Article

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