A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4

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Sammanfattning

Background: To investigate the clinical and radiological presentation of a
new ELOVL4mutation in a Swedish family.
Methods:We compiled information on a Swedish family with 6 affected
members. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically by
whole exome or whole genome sequencing.
Results: All examined affected family members showed slowly progressive
cerebellar ataxia with balance impairment starting at between 42 and 70
years, ocular movement disturbances with nystagmus, hypermetric saccades or vertical gaze palsy, and cerebellar atrophy on imaging. None of the
affected family members had erytrokeratodermia variabilis, but three had
dry skin or psoriasis. Two members had seizures, one had intermittent
muscular cramps. One deceased obligate carrier had dementia and one of
the members examined had mild cognitive dysfunction (MMSE 23/30). One
individual had poor night vision. One individual had a diagnosis of
schizophrenia since age 25 years. We identified a novel heterozygous
variant ELOVL4 c.511A>C, p.(Ile171Leu) (NM_022726.4) in affected individuals. When this was discovered in the first family member it was reported as a variant of uncertain significance (VUS). However, after
segregation analysis and detailed clinical information for the entire family,
the variant could be reclassified as likely pathogenic according to the ACMG classification system (PMID: 25741868) and Jarvik et al (PMID: 27236918).
Conclusions: So far, including the present report, eight different ELOVL4-
variants have been described in SCA34 patients. Our examinations provide
additional knowledge to the presentation of this rare neurodegenerative
disorder.
Originalspråkengelska
ArtikelnummerP 204
Sidor (från-till)72
TidskriftParkinsonism & Related Disorders
Volym113
NummerSuppl
DOI
StatusPublished - 2023

Ämnesklassifikation (UKÄ)

  • Neurologi

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