Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

Molecular Neurodegeneration

Volumn 10, Issue 1, 2015, Pages

  Kiely, Aoife P ^a   Ling, Helen ^a   Asi, Yasmine T ^a   Kara, Eleanna ^g   Proukakis, Christos ^a   Schapira, Anthony H ^a   Morris, Huw R ^a   Roberts, Helen C ^d   Lubbe, Steven ^a   Limousin, Patricia ^a   Lewis, Patrick A ^b,c   Lees, Andrew J ^a,b   Quinn, Niall ^e   Hardy, John ^a,b   Love, Seth ^f   Revesz, Tamas ^a   Houlden, Henry ^b   Holton, Janice L ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF READING   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f UNIVERSITY OF BRISTOL   (United Kingdom)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Clinical features; Multiple system atrophy; Mutation; Parkinson's disease; Phosphorylation; SNCA; synuclein

Indexed keywords

ALPHA SYNUCLEIN; LEVODOPA; RIVASTIGMINE; ROPINIROLE; ANTIPARKINSON AGENT; CODON;

ADULT; AGED; ANXIETY; ARTICLE; AUTONOMIC DYSFUNCTION; BEHAVIOR CHANGE; BLEPHAROSPASM; BRADYKINESIA; BRAIN TISSUE; CASE REPORT; CAUCASIAN; CAUSE OF DEATH; CELL INCLUSION; CHILD; CONFUSION; DEPRESSION; DISEASE ASSOCIATION; DISEASE DURATION; DISORIENTATION; DYSPHAGIA; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE DUPLICATION; GENE MUTATION; HAND TREMOR; HUMAN; HYPERREFLEXIA; IRRITABILITY; MALE; MEMORY DISORDER; MIDDLE AGED; MOTOR DYSFUNCTION; MUSCLE RIGIDITY; MYOCLONUS SEIZURE; OLIGODENDROGLIA; ONSET AGE; ORTHOSTATIC HYPOTENSION; PARANOIA; PARKINSONISM; POSITIONAL DIZZINESS; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PYRAMIDAL SIGN; REFLEX DISORDER; SCHOOL CHILD; SIBLING; SNCA GENE; SPEECH DISORDER; URINARY URGENCY; URINE INCONTINENCE; VISUAL HALLUCINATION; YOUNG ADULT; AMINO ACID SUBSTITUTION; BRAIN; CHEMISTRY; CODON; DEMENTIA; DISEASE COURSE; GENETICS; MISSENSE MUTATION; PARKINSON DISEASE; PATHOLOGY; PEDIGREE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN PROCESSING; PSYCHOLOGY; SHY DRAGER SYNDROME; SYMPTOM ASSESSMENT; ULTRASTRUCTURE;

AGE OF ONSET; AGED; ALPHA-SYNUCLEIN; AMINO ACID SUBSTITUTION; ANTIPARKINSON AGENTS; BRAIN; CODON; DEMENTIA; DISEASE PROGRESSION; FEMALE; GENE DUPLICATION; HUMANS; INCLUSION BODIES; MALE; MIDDLE AGED; MULTIPLE SYSTEM ATROPHY; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; POINT MUTATION; PROTEIN CONFORMATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; SYMPTOM ASSESSMENT; YOUNG ADULT;

EID: 84940198169     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/s13024-015-0038-3     Document Type: Article

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