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Movement disorders in spinocerebellar ataxias
TLDR
When confronted with a patient with an isolated movement disorder, that is, without ataxia, there is currently no reason to routinely screen for SCA gene mutations, the only exceptions being SCA2 in autosomal dominant parkinsonism and SCA17 in the case of a Huntington's disease–like presentation without an HTT mutation.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
TLDR
KIF1A variants are a frequent cause of autosomal dominant spastic paraplegia in patients from a clinical exome sequencing cohort of 347 individuals with a mostly ‘pure’ spastic wraparound disease onset, and the identification of Kif1A loss-of-function variants suggests haploinsufficiency as a possible mechanism in autosomal Dominant Spastic Paraplegia.
The preclinical stage of spinocerebellar ataxias
TLDR
This review article comprehensively summarizes the studies conducted in preclinical carriers of a mutation in one of the SCA genes and concludes that the preclinical phase in SCA is already characterized by detectable central and peripheral nervous system changes.
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
TLDR
Compared with 51 patients with classic A-T from the Dutch cohort, patients with ATM c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency.
De novo SPAST mutations may cause a complex SPG4 phenotype.
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
TLDR
This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature to add aminoacylation assays as biochemical diagnostic tools forLeukodystrophies.
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
TLDR
This study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset and screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
TLDR
It is proposed that a single LMX1A wild-type copy is sufficient for normal development but insufficient for maintenance of cochleovestibular function, which could eventually lead to the progressive phenotype seen in the families of Dutch origin with progressive nonsyndromic hearing impairment.
A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order
TLDR
A diagnostic approach to ataxia developed around a case of sporadic, late-onset, slowly progressive ataxio is suggested, which can narrow the differential diagnosis.
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