Parkinson's syndrome preceding clinical manifestation of Gaucher's disease

Machaczka, Maciej; Rucinska, Malgorzata; Skotnicki, Aleksander B.; Jurczak, Wojciech

doi:10.1002/(sici)1096-8652(199907)61:3<216::aid-ajh12>3.3.co;2-2

Cited by 31 publications

(34 citation statements)

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“…shows that the presence of the N370S allele, in the homoallelic state or as the heteroallele with another mutant GCase allele, absolutely correlates with type 1, nonneuronopathic Gaucher disease. The recent soft correlations with 'Parkinsonian-like' neurologic disease in such patients[69][70][71] requires careful attention since a subpopulation of nonneuronopathic Gaucher disease patients may be predisposed to such neuronopathic manifestations. By comparison, L444P/L444P and D409H/D409H are highly associated with development of neuronopathic disease at some time in life.…”

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confidence: 56%

Gaucher disease: perspectives on a prototype lysosomal disease

Zhao

Grabowski

2002

Cellular and Molecular Life Sciences (CMLS)

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Gaucher disease is an autosomal recessive trait and the most common lysosomal storage disease. The pathogenesis evolves from the diminished activity of the lysosomal hydrolase, acid beta-glucosidase and the resultant accumulation of glucosylceramide within lysosomes. The pathogenic mechanisms are poorly understood. During the past 2 decades, progress has been made in understanding the biochemical basis and molecular biology of the disease, but more fundamental knowledge is required to relate these advances to the cell and whole body phenotypes. Despite this lack of understanding, enzyme replacement therapy has proved a successful and effective management for Gaucher disease. However, basic details of this therapeutic efficacy require elucidation. Here, we review the current state of the molecular pathogenesis and provide our perspective of some major issues for continued advances in this prototype lysosomal storage disease.

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confidence: 56%

Gaucher disease: perspectives on a prototype lysosomal disease

Zhao

Grabowski

2002

Cellular and Molecular Life Sciences (CMLS)

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“…The authors concluded that heterozygous mutations in this gene predisposed to 'idiopathic' PD in the Ashkenazi Jews. This finding has been replicated by most studies, including a series of pathologically confirmed PD [59][60][61][62][63]. It is possible that GBA is a risk factor for PD in the general population, but at a much lower frequency compared with Ashkenazi Jews.…”

Section: Glucocerebrosidase (2004)mentioning

confidence: 94%

Molecular genetic pathways in Parkinson's disease: a review

2005

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Major progress has been made in the last decade in understanding the genetic basis of PD (Parkinson's disease) with five genes unequivocally associated with disease. As a result, multiple pathways have been implicated in the pathogenesis of PD, including proteasome impairment and mitochondrial dysfunction. Although Mendelian genetics has been successful in establishing a genetic predisposition for familial PD, this has not been reiterated in the sporadic form. In fact no genetic factors have been unequivocally associated with increased risk for sporadic PD. The difficulty in identifying susceptibility factors in PD has not only been because of numerous underpowered studies, but we have been unable to dissect out the genetic component in a multifactorial disease. This review aims to summarize the genetic findings within PD.

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“…Conversely, glucocerebrosidase gene mutations have recently emerged as a potential risk factor for idiopathic PD (Aharon-Peretz et al 2004;Bembi et al 2003;Clark et al 2005;Gan-Or et al 2008;Machaczka et al 1999;McKeran et al 1985;Tayebi et al 2003;Ziegler et al 2007). In the largest series of PD patients (in an Israeli Ashkenazi cohort) analyzed for glucocerebrosidase mutations so far (420 PD patients, 333 elderly and 3805 young controls), Gan-Or et al (2008) report that glucerebrosidase mutation carrier frequency is 17.9% in PD patients compared to 4.2% in elderly and 6.4% in young controls.…”

Section: Gd1 and Parkinsonian Symptomsmentioning

confidence: 99%