Publications by authors named "B Gaymard"
Article Synopsis
- - The study investigated changes in biological, clinical, and imaging markers in carriers of spinocerebellar ataxia (SCA) types 2 and 7 over one year, focusing on MRI and neurofilament light chain (NfL) levels.
- - It included assessments of neurological function, quality of life, and brain imaging among 15 SCA2 carriers, 15 SCA7 carriers, and 10 control subjects, while noting differences in SARA scores and brain volume from baseline measurements.
- - Results indicated significant brain volume loss and worsening motor function in SCA2 carriers, an increase in SARA scores and thinning of retinal layers in SCA7, highlighting the progressive nature of these at
Background: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.
Objective: The aim is to identify the missing genetic causes of PKD.
Methods: Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.
Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability.
Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor.
Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplasm characterized by proliferation of tumor histiocytes that involves multiple organs including central nervous system. The physiopathologic process underlying degenerative neuro-LCH (i.e.
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