Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: Novel mutations and neuropsychiatric phenotype in three adult patients

Parkinsonism and Related Disorders

Volumn 20, Issue 3, 2014, Pages 332-336

  Verhoeven, Willem M A ^a,b   Egger, Jos I M ^a,c,d   Koolen, David A ^e   Yntema, Helger ^e   Olgiati, Simone ^b   Breedveld, Guido J ^b   Bonifati, Vincenzo ^b   van de Warrenburg, Bart P C ^d  

^a VINCENT VAN GOGH INSTITUTE FOR PSYCHIATRY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

BPAN; Dystonia; Intellectual disability; NBIA; Neuropsychiatry; Parkinsonism

Indexed keywords

CARBAMAZEPINE; CARBIDOPA PLUS LEVODOPA; VALPROIC ACID; CARRIER PROTEIN; WDR45 PROTEIN, HUMAN;

ADULT; ARTICLE; BEHAVIOR DISORDER; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL LANGUAGE DISORDER; DRUG DOSE REDUCTION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DYSTONIA; FAMILY HISTORY; FEMALE; GASTROSTOMY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HYPOREFLEXIA; INTELLECTUAL IMPAIRMENT; MICROARRAY ANALYSIS; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; MYOPIA; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PES EQUINOVARUS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MODIFICATION; PSYCHOMOTOR RETARDATION; SEIZURE; SOMNOLENCE; SPEECH DELAY; TREATMENT RESPONSE; URINE INCONTINENCE; WDR45 GENE; GENETICS; MENTAL DISORDERS; MIDDLE AGED; MUTATION; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PSYCHOLOGY;

ADULT; CARRIER PROTEINS; FEMALE; HUMANS; MENTAL DISORDERS; MIDDLE AGED; MUTATION; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PHENOTYPE;

EID: 84896401649     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.11.019     Document Type: Article

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