Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation

Archives of Neurology

Volumn 61, Issue 8, 2004, Pages 1314-1320

  Bruni, Amalia C ^a,i   Takahashi Fujigasaki, Junko ^e,f   Maltecca, Francesca ^b,h   Foncin, Jean Francois ^g   Servadio, Antonio ^b,h   Casari, Giorgio ^b   D'Adamo, Pio ^c   Maletta, Raffaele ^a   Curcio, Sabrina A M ^a   De Michele, Giuseppe ^d   Filla, Alessandro ^d   El Hachimi, Khalid H ^f,g   Duyckaerts, Charles ^e,f  

^a Regional Neurogenetic Center AS6   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e Lab Neuropathologie R Escourolle   (France)

^f INSERM   (France)

^g PSL RESEARCH UNIVERSITY   (France)

^h UNIVERSITY OF MILANO BICOCCA   (Italy)

ⁱ Centro Regionale di Neurogenetica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GENE PRODUCT; GLUTAMINE DERIVATIVE; GUANINE; MONOCLONAL ANTIBODY; POLYGLUTAMINE ANTIBODY; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; AUTOPSY; BEHAVIOR DISORDER; BRAIN ATROPHY; BRAIN REGION; CAUDATE NUCLEUS; CELL LOSS; CLINICAL ARTICLE; CLINICAL FEATURE; DEMENTIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLIOSIS; HUMAN; HUMAN TISSUE; INFERIOR OLIVE; MALE; MUSCLE RIGIDITY; NERVE DEGENERATION; NEUROPATHOLOGY; NUCLEOTIDE REPEAT; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PURKINJE CELL; SPINOCEREBELLAR DEGENERATION; TATA BOX; THALAMUS NUCLEUS;

ADULT; AGED; BEHAVIORAL SYMPTOMS; BRAIN; DEMENTIA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE RIGIDITY; MUTATION; PEDIGREE; SPINOCEREBELLAR ATAXIAS; TATA-BOX BINDING PROTEIN;

EID: 4043175666     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.8.1314     Document Type: Article

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