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

Dobloug, S. LU ; Gorcenco, S. LU ; Ehrencrona, H. LU orcid and Puschmann, A. LU orcid (2023) In Parkinsonism & Related Disorders 113(Suppl). p.72-72
Abstract
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... (More)
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. (Less)
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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Parkinsonism & Related Disorders
volume
113
issue
Suppl
article number
P 204
pages
72 - 72
publisher
Elsevier
ISSN
1353-8020
DOI
10.1016/j.parkreldis.2023.105740
language
English
LU publication?
yes
id
fe33f82c-fbb8-419c-8722-8c43330038ad
date added to LUP
2023-08-31 21:48:19
date last changed
2023-09-01 16:51:56
@misc{fe33f82c-fbb8-419c-8722-8c43330038ad,
  abstract     = {{Background: To investigate the clinical and radiological presentation of a<br/>new ELOVL4mutation in a Swedish family.<br/>Methods:We compiled information on a Swedish family with 6 affected<br/>members. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically by<br/>whole exome or whole genome sequencing.<br/>Results: All examined affected family members showed slowly progressive<br/>cerebellar ataxia with balance impairment starting at between 42 and 70<br/>years, ocular movement disturbances with nystagmus, hypermetric saccades or vertical gaze palsy, and cerebellar atrophy on imaging. None of the<br/>affected family members had erytrokeratodermia variabilis, but three had<br/>dry skin or psoriasis. Two members had seizures, one had intermittent<br/>muscular cramps. One deceased obligate carrier had dementia and one of<br/>the members examined had mild cognitive dysfunction (MMSE 23/30). One<br/>individual had poor night vision. One individual had a diagnosis of<br/>schizophrenia since age 25 years. We identified a novel heterozygous<br/>variant ELOVL4 c.511A&gt;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<br/>segregation analysis and detailed clinical information for the entire family,<br/>the variant could be reclassified as likely pathogenic according to the ACMG classification system (PMID: 25741868) and Jarvik et al (PMID: 27236918).<br/>Conclusions: So far, including the present report, eight different ELOVL4-<br/>variants have been described in SCA34 patients. Our examinations provide<br/>additional knowledge to the presentation of this rare neurodegenerative<br/>disorder.}},
  author       = {{Dobloug, S. and Gorcenco, S. and Ehrencrona, H. and Puschmann, A.}},
  issn         = {{1353-8020}},
  language     = {{eng}},
  note         = {{Conference Abstract}},
  number       = {{Suppl}},
  pages        = {{72--72}},
  publisher    = {{Elsevier}},
  series       = {{Parkinsonism & Related Disorders}},
  title        = {{A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4}},
  url          = {{http://dx.doi.org/10.1016/j.parkreldis.2023.105740}},
  doi          = {{10.1016/j.parkreldis.2023.105740}},
  volume       = {{113}},
  year         = {{2023}},
}