Parkinson disease in Gaucher disease

Rodríguez‐Porcel, Federico; Espay, Alberto J.; Carecchio, Miryam

doi:10.1186/s40734-017-0054-2

Cited by 9 publications

(16 citation statements)

References 12 publications

(24 reference statements)

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“…Several movement disorders have been described in the spectrum of lysosomal diseases, among them levodopa responsive parkinsonism and parkinsonism plus (ataxia, dystonia or spasticity) [4,13,21,26]. In this sense, GBA mutation, neuronal ceroid lipofuscinosis, Kufor–Rakeb disease, Niemann Pick type C are among the lysosomal disorders associated to hypokinetic movement disorders and more specifically to Parkinsonisms [21].…”

Section: Methodsmentioning

confidence: 99%

“…Epidemiological data suggest that non-neuropathic GD type 1 needs to be redefined, taking into account the occurrence of neurological signs and symptoms such as movement disorders, cognitive decline, slow saccades and progressive supranuclear palsy [21,47].…”

Section: Methodsmentioning

confidence: 99%

“…Finally, GD type 1 is classically mentioned as non-neuronopathic, with a wide spectrum of age at onset, anemia, thrombocytopenia, and enlargement of the spleen, skeletal abnormalities, interstitial disease and pulmonary hypertension. However, it has been estimated that a neurological symptom occurs in 50% of patients with GD1, and it is possible to identify a neurological abnormality during examination in 30% of patients without neurological complaints [21,22,23].…”

Section: Introductionmentioning

confidence: 99%

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Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

et al. 2019

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In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α–synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

et al. 2019

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“…It is caused by mutations in the glucoceribrosidase ( GBA ) gene. Mutations in GBA constitute the most common risk factor identified for PD to-date [40]. Another autosomal recessive lysosomal storage disorder, Niemann-Pick (NP) type A and B, which results from mutations in the sphingomyelin phosphodiesterase 1 ( SMPD1 ) gene is also reported as a risk-factor for PD [41], while heterozygous carriers of the autosomal recessive lysosomal storage disorder NP type C1 (NPC1), with mutations in the NPC1 gene, have also been reported to present with PD [42].…”

Section: Applicationsmentioning

confidence: 99%

Sterolomics in biology, biochemistry, medicine

Griffiths

2019

TrAC Trends in Analytical Chemistry

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In mammalian systems “sterolomics” can be regarded as the quantitative or semi-quantitative profiling of all metabolites derived from cholesterol and its cyclic precursors. The system can be further complicated by metabolites derived from ingested phytosterols or pharmaceuticals, but this is beyond the scope of this article. “Sterolomics” can be performed on either an unbiased global format, or more usually, exploiting a targeted format. Here we discuss the different mass spectrometry-based analytical techniques used in “sterolomics” giving specific examples in the context of neurodegenerative disease and for the diagnosis of inborn errors of metabolism. We pay particular attention to the profiling of cholesterol metabolites in the bile acid biosynthesis pathways, although the analytical techniques discussed are also appropriate for analysis of hormonal steroids.

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“…For example, peripheral neuropathies and neurological symptoms resulting from spinal compression fractures have been reported in patients with GD type 1 and a higher incidence of Parkinsonism has recently been associated with mutations in the GBA1 gene. 12,13 Conversely, the neuropathic symptoms associated with GD type 3 may be mild, with many patients graduating from college and leading a relatively normal life. 14 Long-term complications associated with GD type 1 include pulmonary hypertension, 15 haematological malignancies (leukaemia, multiple myeloma and lymphoma), and -less frequently -solid cancers (e.g.…”

Section: Gaucher Diseasementioning

confidence: 99%

Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist

Cappellini

Cassinerio

Motta

et al. 2018

European Oncology &Amp; Haematology

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Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The majority of patients with GD present with unexplained splenomegaly and/or thrombocytopenia, and the disorder often affects children; consequently, haematologists and paediatricians are ideally placed to diagnose this condition. Prompt management of GD type 1 using enzyme-replacement therapy or substrate reduction therapy can reduce the risk of developing long-term GD complications and reverse many of the initial signs/symptoms, thereby improving both quality and duration of life. Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential. Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years. Reasons for the delay include the heterogeneous nature of the disease, together with a lack of awareness of rare haematological disorders and the benefits of early treatment. Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia. To help raise awareness of GD, reduce the diagnostic delay and prevent unnecessary tissue biopsies, simple diagnostic algorithms and screening tools have been developed and validated, both in adults and in children.

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Parkinson disease in Gaucher disease

Cited by 9 publications

References 12 publications

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

Sterolomics in biology, biochemistry, medicine

Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist

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