Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor

Martinelli, Paolo; Ippoliti, Massimo; Montanari, Emanuele; Martinelli, Angela; Mochi, M.; Giuliani, Sandro; Sangiorgi, Simonetta

doi:10.1111/j.1600-0404.1994.tb01656.x

Cited by 16 publications

(14 citation statements)

References 19 publications

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“…Our findings denotes a lower enzymatic activity in case of patients with Parkinson syndrome (p=0.002). Similar findings were described in the literature [8] indicating that ARSA deficit may be a metabolic factor associated with the clinical chaacteristics of this disease.…”

Section: Arsa Activity In Parkinson Syndromesupporting

confidence: 90%

Arylsulfatase A: An Important Metabolic Factor in Pathophysiology of Different Diseases

Kovács

Robert

Eniko

et al. 2015

Acta Medica Marisiensis

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Arylsulfatase A (ARSA) is a lysosomal enzyme that plays an important role in catalysis of degradation of cerebrosidesulphate. The deficiency of this lysosomal enzyme causes an autosomal recessive disorder, called metachromatic leucodystrophy. However, a low ARSA activity can be observed in clinically healthy people, called ARSA pseudodeficiency. In our study we investigated the possible linkage between ARSA activity and sulfatide deficiency causing characteristic aspects of degenerative diseases, such as end stage kidney disease, type 2 Diabetes mellitus, Parkinson syndrome, prostate cancer and HIV (Human Immunodeficiency Virus) infection. We used a spectrophotometric method to determine the activity of ARSA. This method of enzyme dosage is based on a 4 hour long hydrolysis of the ARSA enzyme on 4-nitrocatechol sulfate (p-NCS) substrate. The unit of this measurement is nmol/ml/4h. Our findings show significant values in type 2 diabetes, Parkinson syndrome and chronic kidney disease. The importance of sulfatide in these diseases is well-known, thus presumably the variation of the ARSA’s activity might play an important role in the pathophysiology of these diseases, involving a vicious cycle between sulfatide degradation andthese diseases.

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Section: Arsa Activity In Parkinson Syndromesupporting

confidence: 90%

Arylsulfatase A: An Important Metabolic Factor in Pathophysiology of Different Diseases

Kovács

Robert

Eniko

et al. 2015

Acta Medica Marisiensis

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“…Arylsulfatase A activity was reduced by 55% in atypical movement disorder patients, that is, those having parkinsonism not defined as classical PD or those with symptomatic essential tremor. Moreover, 16 of the 27 patients with reduced arylsulfatase A activity and atypical parkinsonism had a positive family history of movement disorders 90. In 2 MLD patients, SNCA accumulated in axons and in glia in cerebral white matter and the brain stem and colocalized with storage products 73…”

Section: Parkinson's Disease and Other Lsdsmentioning

confidence: 99%

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

et al. 2011

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Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage disorder. We have performed an exhaustive literature search and found that additional lysosomal storage disorders might be associated with Parkinson's disease, based on case reports, the appearance of pathological features such as α-synuclein deposits in the brain, and substantia nigra pathology. Our findings suggest that the search for biochemical and cellular pathways that link Parkinson's disease with lysosomal storage disorders should not be limited exclusively to changes that occur in Gaucher disease, such as changes in glucocerebrosidase activity or in glucosylceramide levels, but rather include changes that might be common to a wide variety of lysosomal storage disorders. Moreover, we propose that additional genetic, epidemiological, and clinical studies should be performed to check the precise incidence of mutations in genes encoding lysosomal proteins in patients displaying Parkinson's symptoms.

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“…Total and partial ARSA deficiency have been reported associated with movement disorders such as dystonia, chorea, athetosis, parkinsonism, or other neurological symptoms [132][133][134]. Of interest, in cerebral white matter and brain stem of MLD patients, accumulated α-syn was observed [77].…”

Section: Arsamentioning

confidence: 99%

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease

Paciotti

Albi

Parnetti

et al. 2020

JCM

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Ceramides are a family of bioactive lipids belonging to the class of sphingolipids. Sphingolipidoses are a group of inherited genetic diseases characterized by the unmetabolized sphingolipids and the consequent reduction of ceramide pool in lysosomes. Sphingolipidoses include several disorders as Sandhoff disease, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann Pick disease, Farber disease, and GM2 gangliosidosis. In sphingolipidosis, lysosomal lipid storage occurs in both the central nervous system and visceral tissues, and central nervous system pathology is a common hallmark for all of them. Parkinson’s disease, the most common neurodegenerative movement disorder, is characterized by the accumulation and aggregation of misfolded α-synuclein that seem associated to some lysosomal disorders, in particular Gaucher disease. This review provides evidence into the role of ceramide metabolism in the pathophysiology of lysosomes, highlighting the more recent findings on its involvement in Parkinson’s disease.

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Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor

Cited by 16 publications

References 19 publications

Arylsulfatase A: An Important Metabolic Factor in Pathophysiology of Different Diseases

Arylsulfatase A: An Important Metabolic Factor in Pathophysiology of Different Diseases

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson’s Disease

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