Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

Mulroy, Eoin; Magrinelli, Francesca; Fauzi, Nor Amelia Mohd; Kutty, Shahedah Koya; Latorre, Anna; Bhatia, Kailash P.

doi:10.1016/j.parkreldis.2021.02.011

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…51 There are reports of paroxysmal non-kinesiogenic dyskinesias in a patient with mutations in SLC16A2 gene and exercise-induced dyskinesias in a patient with SPG8. 55,56 Mutation in the VPS13D causes an early-onset SPG complicated by cerebellar ataxia, cervical dystonia, and some patients with chorea and tremors. 57 Oromandibular akinetic mutism, dyskinesia, and athetoid movements of the extremities were described in patients with SPG21 (also known as Mast syndrome) in advanced stages, when patients are typically demented.…”

Section: Myoclonusmentioning

confidence: 99%

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Movement disorders in hereditary spastic paraplegias

Pedroso,

Vale,

Freitas

et al. 2023

Arq Neuropsiquiatr

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Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.

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Section: Myoclonusmentioning

confidence: 99%

“… 51 There are reports of paroxysmal non-kinesiogenic dyskinesias in a patient with mutations in SLC16A2 gene and exercise-induced dyskinesias in a patient with SPG8. 55 56 …”

Section: Movement Disorders In Spgmentioning

confidence: 99%

Movement disorders in hereditary spastic paraplegias

Pedroso,

Vale,

Freitas

et al. 2023

Arq Neuropsiquiatr

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Levodopa

2022

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Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Gao,

Liu,

Dong

et al. 2023

Front. Genet.

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Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear.Method: We report a Chinese family with HSP. The proband was referred to our hospital due to restless leg syndrome and insomnia. The preliminary clinical diagnosis of the proband was spastic paraplegia. Whole-exome sequencing (WES) and RNA splicing analysis were conducted to evaluate the genetic cause of the disease in this family.Results: A novel splice-altering variant (c.712–2A>G) in the WASHC5 gene was detected and further verified by RNA splicing analysis and Sanger sequencing. Real-time qPCR analysis showed that the expression of genes involved in the Wiskott–Aldrich syndrome protein and SCAR homolog (WASH) complex and endosomal and lysosomal systems was altered due to this variant.Conclusion: A novel heterozygous splice-altering variant (c.712–2A>G) in the WASHC5 gene was detected in a Chinese family with HSP. Our study provided data for genetic counseling to this family and offered evidence that this splicing variant in the WASHC5 gene is significant in causing HSP.

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Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

Cited by 3 publications

References 14 publications

Movement disorders in hereditary spastic paraplegias

Movement disorders in hereditary spastic paraplegias

Levodopa

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

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