Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson’s disease
نویسندگان
چکیده
منابع مشابه
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations. Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson’s disease (PD) risk. Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA). We used the non-motor symptoms scale...
متن کاملParkinsonism Associated with Glucocerebrosidase Mutation
BACKGROUND Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations. CASE REPORT A 44-year-old woman suffering f...
متن کاملGait alterations in healthy carriers of the LRRK2 G2019S mutation.
To test for an association between the LRRK2-G2019S mutation and gait, we studied 52 first-degree relatives of patients with Parkinson's disease (PD) who carry this mutation. An accelerometer quantified gait during usual-walking, fast-walking, and dual-tasking. Noncarriers (n = 27) and carriers (n = 25) were similar with respect to age, gender, height, and gait speed during all conditions. Duri...
متن کاملI-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
متن کاملAutomatic, unsupervised classification of dyskinesia in patients with Parkinsons Disease
One of the characteristic symptoms of patients with Parkinson Disease (PD) is a rigidity of movement. These symptoms disappear after administration of Levodopa. However, the long-term use of levodopa causes involuntary movements (dyskinesia). A proper diagnosis requires an automatic, unsupervised method for the detection and classification of levodopa induced dyskinesia. The main problem, howev...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLOS ONE
سال: 2020
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0226494