Regular ArticleGaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization
References (46)
- et al.
Type 2 Gaucher disease: An expanding phenotype
Mol Genet Metab
(1999) - et al.
Hematologically important mutations: Gaucher disease
Blood Cells Mol Dis
(1998) - et al.
Gaucher's disease: molecular, genetic, and enzymological aspects
Baillieres Clin Haematol
(1997) - et al.
Analysis and classification of 304 mutant alleles in patients with Type 1 and Type 3 Gaucher disease
Am J Hum Genet
(2000) - et al.
Structure and organization of the human metaxin gene (MTX) and pseudogene
Genomics
(1996) - et al.
Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion
J Biol Chem
(1997) - et al.
Pathological findings in Gaucher disease type 2 patients following enzyme therapy
Hum Pathol
(1995) - et al.
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus
Mol Genet Metab
(1998) - et al.
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
Lancet
(1995) - et al.
Vertebrate pseudogenes
FEBS Lett
(2000)
Modifier genes convert “simple” Mendelian disorders to complex traits
Mol Genet Metab
Monogenic traits are not simple: lessons from phenylketonuria
Trends Genet
Phenotypes of patients with “simple” mendelian disorders are complex traits: Thresholds, modifiers and systems dynamics
Am J Hum Genet
Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
Mol Genet Metab
Glucosylceramide lipidoses
Glucosylceramide lipidoses: Gaucher's disease
Neurologic complications of nonneuronopathic Gaucher's disease
Arch Neurol
Un cas de maladie de Gaucher de l'adulte avec syndrome de Raynaud, pigmentation, et rigidite du type extra-pyramidal aux membres inferieurs
Ann Med
Clinical diversity in Gaucher's disease
Johns Hopkins Med J
Neurological involvement in type 1 (adult) Gaucher's disease
J Neurol Neurosurg Psychiatry
Chung Hua Shen Ching Chung Shon Ko Tsa Chih
Medicine
Parkinsonian symptomatology in a patient with type I (adult) Gaucher's disease
Cited by (179)
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways
2021, Free Radical Biology and MedicineGBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies
2020, Molecular Genetics and MetabolismBiomarker detection of Parkinson’s disease: therapy and treatment using nanomaterials
2020, Nanomaterials in Diagnostic Tools and DevicesPathways of protein synthesis and degradation in PD pathogenesis
2020, Progress in Brain ResearchCitation Excerpt :Lysosomal degradation through either autophagy or CMA thus appears to modulate intracellular levels of α-synuclein protein, and disruption of these pathways may contribute to pathogenic accumulation of α-synuclein in PD. Interest in involvement of the lysosome in Parkinson's disease pathophysiology further grew from reports of a subset of patients with Gaucher's disease (GD), an inherited lysosomal storage disorder (LSD), who presented with Parkinsonian symptoms including bradykinesia, tremor, and rigidity (Machaczka et al., 1999; Neudorfer et al., 1996; Tayebi et al., 2001). Additionally, neuropathological exam of Gaucher's patients with parkinsonism features revealed synuclein-positive Lewy bodies (Tayebi et al., 2003).
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
2024, Internal MedicineA global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative
2023, Orphanet Journal of Rare Diseases
- 1
To whom correspondence should be addressed. Fax: (301) 402-6438. E-mail: [email protected].