Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

doi:10.1002/mds.23265

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Article

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

Movement disorders : official journal of the Movement Disorder Society - 15 Oct 2010

Aasly Jan O, Vilariño-Güell Carles, Dachsel Justus C, Webber Philip J, West Andrew B, Haugarvoll Kristoffer, Johansen Krisztina K, Toft Mathias, Nutt John G, Payami Haydeh, Kachergus Jennifer M, Lincoln Sarah J, Felic Amela, Wider Christian, Soto-Ortolaza Alexandra I, Cobb Stephanie A, White Linda R, Ross Owen A, Farrer Matthew J

Abstract excerpt

Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease manifestatio...

Topics

Aged
Aged, 80 and over
Asparagine
Cell Line, Transformed
Female
Genetic Testing
Guanosine Triphosphate
Histidine
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Norway

Parkinson Disease

Protein Serine-Threonine Kinases

Psychiatric Status Rating Scales

Tomography, Emission-Computed, Single-Photon

Source

Open in PubMed Open full text

Identifiers

PMID: 20669305
DOI: 10.1002/mds.23265
PMCID: PMC2970614

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-20669305-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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