Type I Gaucher disease with bullous pemphigoid and Parkinson disease
نویسندگان
چکیده
منابع مشابه
Parkinson disease in Gaucher disease
BACKGROUND Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION We report two patients with GD that developed PD at different disease stages. CONCLUSION We reviewed the literature on the coexistence of P...
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Bullous pemphigoid (BP) and psoriasis vulgaris represent two clinically well characterized, inflammatory, chronic skin diseases. A 62 years old female patient, from rural areas, was admitted for the presence of erythematous plaques covered by large tense blisters with clear fluid, located symmetrically on the anterior part of the upper limbs, the trunk, the neck and the lower limbs. Also the le...
متن کاملMutations for Gaucher disease confer high susceptibility to Parkinson disease.
BACKGROUND Increased frequency of pathogenic variants in GBA, the causative gene for Gaucher disease, has been suggested to be associated with Parkinson disease (PD). OBJECTIVES To conduct comprehensive resequencing of GBA to identify all sequence variants and to investigate the association of these variants with PD. DESIGN Case-control study. SETTING Multicenter university-based study. ...
متن کاملProdromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 pati...
متن کاملBullous pemphigoid and neurological disease: statistics from a dermatology service*
Bullous pemphigoid (BP) is an autoimmune, acquired, cutaneous disease caused by the production of autoantibodies against hemidesmosomes' components in the basement membrane. The estimated incidence in Europe ranges from 7 to 43 cases per million inhabitants per year. Several studies have reported an association between BP and neurological disorders (ND). Our cohort of Bullous pemphigoid and ND ...
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ژورنال
عنوان ژورنال: Medicine
سال: 2018
ISSN: 0025-7974
DOI: 10.1097/md.0000000000010188