Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

Brain

Volumn 126, Issue 4, 2003, Pages 946-955

  Squitieri, Ferdinando ^a   Gellera, Cinzia ^b   Cannella, Milena ^a   Mariotti, Caterina ^b   Cislaghi, Giuliana ^c   Rubinsztein, David C ^d   Almqvist, Elisabeth W ^f   Turner, David ^g   Bachoud Lévi, Anne Catherine ^i,j   Simpson, Sheila A ^e   Delatycki, Martin ^h   Maglione, Vittorio ^a   Hayden, Michael R ^f   Di Donato, Stefano ^b  

^a IRCCS NEUROMED   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Ospedale G Fornaroli   (Italy)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e NHS GRAMPIAN   (United Kingdom)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g FLINDERS UNIVERSITY   (Australia)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ Laboratoire d'Excellence Inflamex   (France)

^j HENRI MONDOR HOSPITAL   (France)

more..

Author keywords

Age at onset; Brain atrophy; CAG expansion; CAG mutation homozygosity; Disease progression; UHDRS

Indexed keywords

CELL DNA; MUTANT PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; BEHAVIOR DISORDER; BRAIN ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUNTINGTON CHOREA; MALE; MOTOR ACTIVITY; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NEUROPATHOLOGY; NUCLEOTIDE REPEAT; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; ADOLESCENT; CLINICAL TRIAL; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; GENETICS; HOMOZYGOTE; MIDDLE AGED; MULTICENTER STUDY; MUTATION; RADIOGRAPHY;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; COHORT STUDIES; DISEASE PROGRESSION; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MUTATION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0037379416     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg077     Document Type: Article

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