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Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8
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To date, approximately 37 variants in WASHC5, including three splice mutations and one gross deletion variant, have been identified in a range of phenotypes.
“To date, approximately 37 variants in WASHC5, including three splice mutations and one gross deletion variant, have been identified in a range of phenotypes (Elliott et al., 2013; Mulroy et al., 2021; D'Amore et al., 2018; Ma et al., 2018).”
From Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient (2023) · cites this paper as Mulroy et al., 2021
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Research works printed but not linked: 14
- Finsterer, 2012, Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance, J. Neurol. Sci., 318, 1, 10.1016/j.jns.2012.03.025 · DOI
- Harding, 1981, Hereditary ‘pure’ spastic paraplegia: a clinical and genetic study of 22 families, J. Neurol. Neurosurg. Psychiatry, 44, 871, 10.1136/jnnp.44.10.871 · DOI
- Erro, 2014, The clinical syndrome of paroxysmal exercise-induced dystonia: diagnostic outcomes and an algorithm, Mov. Disord. Clin. Pract., 1, 57, 10.1002/mdc3.12007 · DOI
- Yamamura, 2000, Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification, Brain Dev., 22, 87, 10.1016/S0387-7604(00)00130-3 · DOI
- Rohé, 2004, Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism, Ann. Neurol., 56, 427, 10.1002/ana.20247 · DOI
- Wilder-Smith, 2003, Spinocerebellar ataxia type 3 presenting as an l-DOPA responsive dystonia phenotype in a Chinese family, J. Neurol. Sci., 213, 25, 10.1016/S0022-510X(03)00129-1 · DOI
- Doherty, 2013, Parkin disease, JAMA Neurol, 70, 571, 10.1001/jamaneurol.2013.172 · DOI
- Wijemanne, 2015, SPG11 mutations associated with a complex phenotype resembling dopa-responsive dystonia, Mov. Disord. Clin. Pract., 2, 149, 10.1002/mdc3.12144 · DOI
- Siow, 2019, Motor evoked potentials in hereditary spastic paraplegia—a systematic review, Front. Neurol., 10, 10.3389/fneur.2019.00967 · DOI
- Steinberg, 2013, A global analysis of SNX27–retromer assembly and cargo specificity reveals a function in glucose and metal ion transport, Nat. Cell Biol., 15, 461, 10.1038/ncb2721 · DOI · Paper page
- Piotrowski, 2013, WASH knockout T cells demonstrate defective receptor trafficking, proliferation, and effector function, Mol. Cell Biol., 33, 958, 10.1128/MCB.01288-12 · DOI · Paper page
- Williams, 2018, Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting, Hum. Mol. Genet., 27, 3189, 10.1093/hmg/ddy224 · DOI
- Williams, 2017, VPS35, the retromer complex and Parkinson's disease, J. Parkinsons Dis., 7, 219, 10.3233/JPD-161020 · DOI
- Garone, 2020, Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias, Int. J. Mol. Sci., 21, 3603, 10.3390/ijms21103603 · DOI
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Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient
Gao, S.-Y., Liu, Y.-X., Dong, Y., Fan, L.-L., Ding, Q., & Liu, L. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1205052 · Cited by 2
Metadata
- Authors
- Mulroy, E., Magrinelli, F., Mohd Fauzi, N. A., Kutty, S. K., Latorre, A., & Bhatia, K. P.
- Venue
- Parkinsonism & Related Disorders
- Publisher
- Elsevier BV
- Published
- 2021-04
- Volume
- 85
- Pages
- 26-28
- ISSN
- 1353-8020
- Cited by
- 4
- References
- 0
- Language
- en
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