Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

We have recently identified mutations in a gene leucine‐rich repeat kinase–2 (LRRK2), which cause autosomal dominant Parkinson's disease. Here, we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation. We present here a clinical description of...

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Published inAnnals of neurology Vol. 57; no. 3; pp. 453 - 456
Main Authors Hernandez, Dena G., Paisán-Ruíz, Coro, McInerney-Leo, Aideen, Jain, Shushant, Meyer-Lindenberg, Andreas, Evans, E. Whitney, Berman, Karen F., Johnson, Janel, Auburger, Georg, Schäffer, Alejandro A., Lopez, Grisel J., Nussbaum, Robert L., Singleton, Andrew B.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2005
Willey-Liss
Subjects
Aged
Amino Acid Sequence
Animals
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dihydroxyphenylalanine - analogs & derivatives
Dihydroxyphenylalanine - pharmacology
DNA Mutational Analysis - methods
Family Health
Female
Genetic Predisposition to Disease
Genotype
Glycine - genetics
Humans
Investigative techniques, diagnostic techniques (general aspects)
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Medical sciences
Mutation
Nervous system
Neurology
Parkinson Disease - diagnostic imaging
Parkinson Disease - genetics
Pedigree
Positron-Emission Tomography - methods
Protein-Serine-Threonine Kinases - genetics
Radionuclide investigations
Serine - genetics
Nervous system diseases
Central nervous system disease
Parkinson disease
Degenerative disease
Positron emission tomography
Cerebral disorder
Extrapyramidal syndrome
Emission tomography
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Summary:We have recently identified mutations in a gene leucine‐rich repeat kinase–2 (LRRK2), which cause autosomal dominant Parkinson's disease. Here, we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation. We present here a clinical description of patients, including 6‐18F‐fluoro‐L‐dopa positron emission tomography and discuss the potential implications of this mutation, which alters a conserved residue in a domain required for kinase activation. Ann Neurol 2005;57:453–456
Bibliography:istex:2C945245C7DD6AA6498B34D7B63B1709044FCA83
ark:/67375/WNG-S32212B5-9
ArticleID:ANA20401
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ObjectType-Article-1
ObjectType-Feature-2
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.20401