G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

BMJ Case Reports

Volumn , Issue , 2009, Pages

  Gaig, Carles ^a   Martí, María José ^a   Ezquerra, Mario ^a   Cardozo, Adriana ^b   Rey, Maria Jesus ^b   Tolosa, Eduardo ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84897585636     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.08.2008.0632     Document Type: Article

References (16)

1. Paisán-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004; 44: 595-600. [CrossRef] [Medline] [Web of Science] (Pubitemid 39531224)
2. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004; 44: 601-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 39531225)
3. Di Fonzo A, Tassorelli C, De Mari M, et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 2006; 14: 322-31. [CrossRef] [Medline] [Web of Science]
4. Nichols WC, Pankratz N, Hernandez D, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005; 365: 410-12. [Medline] [Web of Science] (Pubitemid 40179227)
5. Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005; 365: 415-16. [Medline] [Web of Science] (Pubitemid 40179229)
6. Gaig C, Ezquerra M, Martí MJ, et al. LRRK2 mutations in Spanish patients with Parkinson's disease: frequency, clinical features and incomplete penetrance. Arch Neurol 2006; 63: 377-82. [CrossRef] [Medline] [Web of Science]
7. Hughes AJ, Daniel SE, Kilford L, et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181-4. [Abstract/FREE Full text]
8. Funayama M, Hasegawa K, Ohta E, et al. An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol 2005; 57: 918-21. [CrossRef] [Medline] [Web of Science] (Pubitemid 40798631)
9. Hasegawa K, Kowa H. Autosomal dominant familial Parkinson disease: older onset of age, and good response to levodopa therapy. Eur Neurol 1997; 38(Suppl 1): 39-43. [CrossRef] [Medline] [Web of Science] (Pubitemid 27326698)
10. Khan NL, Jain S, Lynch JM, et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 2005; 128: 2786-96. [Abstract/FREE Full text] (Pubitemid 41746633)
11. Ross OA, Toft M, Whittle AJ, et al. LRRK2 and Lewy body disease. Ann Neurol 2006; 59: 388-93. [CrossRef] [Medline] [Web of Science] (Pubitemid 43202496)
12. Giasson BI, Covy JP, Bonini NM, et al. Biochemical and pathological characterization of LRRK2. Ann Neurol 2006; 59: 315-22. [CrossRef] [Medline] [Web of Science] (Pubitemid 43202485)
13. Rajput A, Dickson DW, Robinson CA, et al. Lrrk2 G2019S, and tau neuropathology. Neurology 2006; 67: 1506-8. [Abstract/FREE Full text]
14. Mori H, Kondo T, Yokochi M, et al. Pathological and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998; 51: 890-2. [Abstract/FREE Full text] (Pubitemid 28449284)
15. Khan NL, Graham E, Critchley P, et al. Parkin disease: a phenotypic study of a large case series. Brain 2003; 126: 1279-92. [Abstract/FREE Full text] (Pubitemid 36644375)
16. Beach TG, Walker DG, Sue LI, et al. Substantia nigra Marinesco bodies are associated with decreased striatal expression of dopaminergic markers. J Neuropathol Exp Neurol 2004; 63: 329-37. [Medline] [Web of Science] (Pubitemid 38429030)