Biomaterial Database

Levodopa responsive Parkinsonism in adults with Angelman Syndrome. 2001

M Harbord

Department of Paediatrics and Child Health, Flinders Medical Centre, Bedford Park, SA, Australia.

Two intellectually disabled adults with Angelman Syndrome are reported who developed intermittent episodes of a severe resting tremor, cogwheel rigidity and bradykinesia in their late teens. The Parkinsonism was not due to medications and there was a dramatic improvement with levodopa therapy. The association between Angelman Syndrome and Parkinsonism has not previously been described.

UI	MeSH Term	Description	Entries
D007980	Levodopa	The naturally occurring form of DIHYDROXYPHENYLALANINE and the immediate precursor of DOPAMINE. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to DOPAMINE. It is used for the treatment of PARKINSONIAN DISORDERS and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system.	L-Dopa,3-Hydroxy-L-tyrosine,Dopaflex,Dopar,L-3,4-Dihydroxyphenylalanine,Larodopa,Levopa,3 Hydroxy L tyrosine,L 3,4 Dihydroxyphenylalanine,L Dopa
D008297	Male		Males
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000978	Antiparkinson Agents	Agents used in the treatment of Parkinson's disease. The most commonly used drugs act on the dopaminergic system in the striatum and basal ganglia or are centrally acting muscarinic antagonists.	Antiparkinson Drugs,Antiparkinsonian Agents,Antiparkinsonians,Agents, Antiparkinson,Agents, Antiparkinsonian,Drugs, Antiparkinson
D017204	Angelman Syndrome	A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)	Happy Puppet Syndrome,Puppet Children,Children, Puppet,Syndrome, Angelman,Syndrome, Happy Puppet
D020734	Parkinsonian Disorders	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	Autosomal Recessive Juvenile Parkinsonism,Familial Juvenile Parkinsonism,Parkinsonian Syndrome,Parkinsonism,Parkinsonism, Experimental,Parkinsonism, Juvenile,Ramsay Hunt Paralysis Syndrome,Autosomal Dominant Juvenile Parkinson Disease,Autosomal Dominant Juvenile Parkinsonism,Autosomal Dominant Parkinsonism,Autosomal Recessive Juvenile Parkinson Disease,Autosomal Recessive Parkinsonism,Chromosome 6-Linked Autosomal Recessive Parkinsonism,Experimental Parkinson Disease,Experimental Parkinsonism,Experimental Parkinsonism, MPTP-Induced,Familial Parkinson Disease, Autosomal Recessive,Juvenile Parkinson Disease,Juvenile Parkinson Disease, Autosomal Dominant,Juvenile Parkinson Disease, Autosomal Recessive,Juvenile Parkinsonism, Autosomal Dominant,Juvenile Parkinsonism, Autosomal Recessive,MPTP-Induced Experimental Parkinsonism,Parkinson Disease 2,Parkinson Disease 2, Autosomal Recessive Juvenile,Parkinson Disease Autosomal Recessive, Early Onset,Parkinson Disease, Autosomal Dominant. Juvenile,Parkinson Disease, Experimental,Parkinson Disease, Familial, Autosomal Recessive,Parkinson Disease, Juvenile,Parkinson Disease, Juvenile, Autosomal Dominant,Parkinson Disease, Juvenile, Autosomal Recessive,Parkinsonian Diseases,Parkinsonian Syndromes,Parkinsonism, Early Onset, with Diurnal Fluctuation,Parkinsonism, Early-Onset, With Diurnal Fluctuation,Parkinsonism, Juvenile, Autosomal Dominant,Parkinsonism, Juvenile, Autosomal Recessive,Chromosome 6 Linked Autosomal Recessive Parkinsonism,Diseases, Experimental Parkinson,Dominant Parkinsonism, Autosomal,Experimental Parkinson Diseases,Experimental Parkinsonism, MPTP Induced,Experimental Parkinsonisms,Juvenile Parkinsonism,Juvenile Parkinsonism, Familial,Juvenile Parkinsonisms,MPTP Induced Experimental Parkinsonism,Parkinson Diseases, Experimental,Parkinsonism, Autosomal Dominant,Parkinsonism, Autosomal Recessive,Parkinsonism, Familial Juvenile,Parkinsonism, MPTP-Induced Experimental,Parkinsonisms, Experimental,Parkinsonisms, Juvenile,Recessive Parkinsonism, Autosomal