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Non-Motor Symptoms in Primary Familial Brain Calcification.
- Source :
-
Journal of clinical medicine [J Clin Med] 2024 Jun 30; Vol. 13 (13). Date of Electronic Publication: 2024 Jun 30. - Publication Year :
- 2024
-
Abstract
- Background/Objectives : Primary Familial Brain Calcification is a rare neurodegenerative disorder of adulthood characterized by calcium deposition in the basal ganglia and other brain areas; the main clinical manifestations include movement disorders, mainly parkinsonism. Non-motor symptoms are not well defined in PFBC. This work aims at defining the burden of non-motor symptoms in PFBC. Methods : A clinical, genetic and neuropsychological evaluation of a cohort of PFBC patients, COMPASS-31 scale administration. Results : A total of 50 PFBC patients were recruited; in 25, the genetic test was negative; 10 carried mutations in SLC20A2 gene, 8 in MYORG , 3 in PDGFB , 1 in PDGFRB , 2 in JAM2 (single mutations), and one test is still ongoing. The main motor manifestation was parkinsonism. Headache was reported in 26% of subjects (especially in PDGFB mutation carriers), anxiety or depression in 62%, psychosis or hallucinations in 10-12%, sleep disturbances in 34%; 14% of patients reported hyposmia, 32% constipation, and 34% urinary disturbances. A neuropsychological assessment revealed cognitive involvement in 56% (sparing memory functions, to some extent). The COMPASS-31 mean score was 20.6, with higher sub-scores in orthostatic intolerance and gastrointestinal problems. MYORG patients and subjects with cognitive decline tended to have higher scores and bladder involvement compared to other groups. Conclusions : The presence of non-motor symptoms is frequent in PFBC and should be systematically assessed to better meet patients' needs.
Details
- Language :
- English
- ISSN :
- 2077-0383
- Volume :
- 13
- Issue :
- 13
- Database :
- MEDLINE
- Journal :
- Journal of clinical medicine
- Publication Type :
- Academic Journal
- Accession number :
- 38999439
- Full Text :
- https://doi.org/10.3390/jcm13133873