Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in one family with the same genotype. A 28-year-old m...
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doaj-8ccff4ba88494a2e936e588f4286165d2020-11-25T02:16:14ZengSungkyunkwan University School of MediPrecision and Future Medicine2508-79402508-79592019-09-013313513810.23838/pfm.2019.0008662Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegenerationJong Kyu Park0Jinyoung Youn1Jin Whan Cho2 Department of Neurology, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, KoreaPhospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in one family with the same genotype. A 28-year-old male presented with slowly progressive gait disturbance with spasticity. Onset occurred at 11 years. Interestingly, his younger brother, a 24-year-old male, presented with progressive Parkinsonism, which began at 22 years. He showed excellent response to levodopa but developed a fluctuating medication response and levodopa-induced dyskinesia 1 year after starting levodopa medication. He also demonstrated hyperreflexia, but no spasticity. Dopamine transporter imaging showed reduced uptake in the bilateral putamen. In whole-exome sequencing and Sanger sequencing, a homozygous pathogenic variant (p. R747W) in the PLA2G6 gene was detected in both cases. Despite different clinical features, both subjects had hyperreflexia during the examination and claval hypertrophy was shown on the brain magnetic resonance imaging.http://www.pfmjournal.org/upload/pdf/pfm-2019-00086.pdfParkinson diseaseGenetic analysis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jong Kyu Park Jinyoung Youn Jin Whan Cho |
spellingShingle |
Jong Kyu Park Jinyoung Youn Jin Whan Cho Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration Precision and Future Medicine Parkinson disease Genetic analysis |
author_facet |
Jong Kyu Park Jinyoung Youn Jin Whan Cho |
author_sort |
Jong Kyu Park |
title |
Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
title_short |
Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
title_full |
Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
title_fullStr |
Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
title_full_unstemmed |
Intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
title_sort |
intrafamilial variability and clinical heterogeneity in a family with -associated neurodegeneration |
publisher |
Sungkyunkwan University School of Medi |
series |
Precision and Future Medicine |
issn |
2508-7940 2508-7959 |
publishDate |
2019-09-01 |
description |
Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in one family with the same genotype. A 28-year-old male presented with slowly progressive gait disturbance with spasticity. Onset occurred at 11 years. Interestingly, his younger brother, a 24-year-old male, presented with progressive Parkinsonism, which began at 22 years. He showed excellent response to levodopa but developed a fluctuating medication response and levodopa-induced dyskinesia 1 year after starting levodopa medication. He also demonstrated hyperreflexia, but no spasticity. Dopamine transporter imaging showed reduced uptake in the bilateral putamen. In whole-exome sequencing and Sanger sequencing, a homozygous pathogenic variant (p. R747W) in the PLA2G6 gene was detected in both cases. Despite different clinical features, both subjects had hyperreflexia during the examination and claval hypertrophy was shown on the brain magnetic resonance imaging. |
topic |
Parkinson disease Genetic analysis |
url |
http://www.pfmjournal.org/upload/pdf/pfm-2019-00086.pdf |
work_keys_str_mv |
AT jongkyupark intrafamilialvariabilityandclinicalheterogeneityinafamilywithassociatedneurodegeneration AT jinyoungyoun intrafamilialvariabilityandclinicalheterogeneityinafamilywithassociatedneurodegeneration AT jinwhancho intrafamilialvariabilityandclinicalheterogeneityinafamilywithassociatedneurodegeneration |
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1724891731796688896 |