Type 1 Familial Parkinson Disease

A severe hereditary autosomal dominant form of Parkinson Disease with onset in mid to late adulthood. It is characterized by the presence of LEWY BODIES in the SUBSTANTIA NIGRA and LOCUS CERULEUS, cell loss and GLIOSIS in the brainstem, and tissue vacuolization in the medial temporal regions. Mutations in the SNCA gene have been identified. OMIM: 168601

Also Known As:

Networked: 10 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Parkinson Disease (Parkinson's Disease)
2.	Neurodegenerative Diseases (Neurodegenerative Disease)
3.	Ocular Hypertension (Glaucoma, Suspect)
4.	Glaucoma
5.	Alzheimer Disease (Alzheimer's Disease)

Experts

1.	Hardy, John: 2 articles (09/2011 - 04/2004)
2.	Singleton, Amanda: 2 articles (09/2011 - 04/2004)
3.	Singleton, Andrew: 2 articles (09/2011 - 04/2004)
4.	Göbel, Winfried: 1 article (09/2014)
5.	Malzahn, Uwe: 1 article (09/2014)
6.	Matlach, Juliane: 1 article (09/2014)
7.	Wagner, Martin: 1 article (09/2014)
8.	Adler, Charles H: 1 article (09/2011)
9.	Bird, Thomas: 1 article (09/2011)
10.	Caselli, Richard: 1 article (09/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1 Familial Parkinson Disease:

1.	alpha-SynucleinIBA 04/01/2004 - "We have recently described a whole-gene triplication of alpha-synuclein causing Lewy body parkinsonism in a large, well characterized family called the 'Iowa kindred'. " 06/01/2000 - "We have identified a large family with Lewy body parkinsonism linked to a novel locus on chromosome 4p15 that does not have a mutation in the alpha-synuclein gene. " 06/01/2000 - "The identification of the alpha-synuclein gene on chromosome 4q as a locus for familial Lewy-body parkinsonism and of alpha-synuclein as a component of Lewy bodies has heralded a new era in the study of Parkinson's disease. "
2.	Levodopa (L Dopa)FDA LinkGeneric 07/01/1992 - "Levodopa-nonresponsive Lewy body parkinsonism: clinicopathologic study of two cases." 01/01/1999 - "We investigated a large family with levodopa-responsive, Lewy body parkinsonism in which the disease segregates as an apparent autosomal dominant trait. "
3.	SynucleinsIBA 09/01/2011 - "Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred)."
4.	Cytochrome P-450 CYP2D6 (CYP2D6)IBA 04/15/1996 - "Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism."
5.	Retinaldehyde (Retinal)IBA 09/16/2014 - "To compare measurement of macular inner retina and peripapillary retinal nerve fiber layer (pRNFL) thickness using two spectral-domain optical coherence tomography (SD-OCT) devices in glaucoma patients, patients with ocular hypertension, idiopathic and atypical Parkinson disease, and healthy controls. "
6.	NADH DehydrogenaseIBA 04/15/1996 - "Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism."
7.	EnzymesIBA 06/15/1995 - "Employing PCR based genomic sequencing and restriction enzyme analysis on 19 cases of Lewy-body parkinsonism, we exclude this mutation as a common cause of Parkinson's disease. "
8.	Mitochondrial DNA (mtDNA)IBA 09/01/1997 - "We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy-body parkinsonism. "
9.	Apolipoproteins E (ApoE)IBA 07/16/1996 - "We determined ApoE allele frequencies in 35 subjects with neuropathologically confirmed Lewy body Parkinsonism with and without concomitant Alzheimer lesions, 27 patients with Alzheimer's disease (AD), and 54 controls without neurodegenerative disease. "