NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Riboldi, Giulietta; Monfrini, Edoardo; Stahl, Christine E.

doi:10.5334/tohm.696

Cited by 8 publications

(8 citation statements)

References 20 publications

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“…Myoclonus (including myoclonic tremor) is the most frequent movement disorder, recognized in 60% (n = 31) of DHDDS and 54% (n = 25) of NUS1 patients, with facial involvement in 21%. 13,15,24 Tremor (58% (n = 30/52) of DHDDS and 44% (n = 20) of NUS1 patients) is often described as "jerky" suggesting myoclonus is under-recognized. Multifocal myoclonus at rest and exacerbated by action, typically emerges in infancy or childhood.…”

Section: Tremor and Myoclonusmentioning

confidence: 99%

“…Tremor (58% (n = 30/52) of DHDDS and 44% (n = 20) of NUS1 patients) is often described as “jerky” suggesting myoclonus is under‐recognized. Multifocal myoclonus at rest and exacerbated by action, typically emerges in infancy or childhood 15,24 . Myoclonus first affects the distal upper limbs with later involvement of the trunk and face 15,22 .…”

Section: Literature Reviewmentioning

confidence: 99%

“…20,21 Treatment Myoclonus is usually treatment-resistant with only partial response reported to high-dose clonazepam, baclofen, 13,20 propranolol, 1,9 very low-dose tetrabenazine and risperidone. 17,24 Parkinsonism/hypertonia was unresponsive to levodopa (n = 4). 1,8 Thalamic deep brain stimulation was of moderate benefit to myoclonic tremor in one patient.…”

Section: Development and Epilepsy (Supplemental Materials 2)mentioning

confidence: 99%

“…Multifocal myoclonus at rest and exacerbated by action, typically emerges in infancy or childhood. 15,24 Myoclonus first affects the distal upper limbs with later involvement of the trunk and face. 15,22 Lower limb myoclonus may contribute to deteriorating gait and sudden falls.…”

Section: Tremor and Myoclonusmentioning

confidence: 99%

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DHDDS and NUS1: A Converging Pathway and Common Phenotype

Williams,

Waller,

Qiu

et al. 2023

Movement Disord Clin Pract

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BackgroundVariants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis.CasesWe describe three patients with heterozygous variants in DHDDS and five with variants affecting NUS1. They bear a remarkably similar phenotype of a movement disorder dominated by multifocal myoclonus. Diagnostic clues include myoclonus exacerbated by action and facial involvement, and slowly progressive or stable, gait ataxia with disproportionately impaired tandem gait. Myoclonus is confirmed with neurophysiology, including EMG of facial muscles.Literature Review98 reports of heterozygous variants in DHDDS, NUS1 and chromosome 6q22.1 structural alterations spanning NUS1, confirm the convergent phenotype of hypotonia at birth, developmental delay, multifocal myoclonus, ataxia, dystonia and later parkinsonism with or without generalized epilepsy. Other features include periodic exacerbations, stereotypies, anxiety, and dysmorphisms. Although their gene products contribute to dolichol biosynthesis, a key step in N‐glycosylation, transferrin isoform profiles are typically normal. Imaging is normal or non‐specific.ConclusionsRecognition of their shared phenotype may expedite diagnosis through chromosomal microarray and by including DHDDS/NUS1 in movement disorder gene panels.This article is protected by copyright. All rights reserved.

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Section: Tremor and Myoclonusmentioning

confidence: 99%

Section: Literature Reviewmentioning

confidence: 99%

Section: Development and Epilepsy (Supplemental Materials 2)mentioning

confidence: 99%

Section: Tremor and Myoclonusmentioning

confidence: 99%

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DHDDS and NUS1: A Converging Pathway and Common Phenotype

Williams,

Waller,

Qiu

et al. 2023

Movement Disord Clin Pract

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“…2 Ataxia Telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease characterized by cutaneous telangiectasia, cerebellar atrophy with progressive ataxia, high malignancy, and immunodeficiency. 3 The prevalence of AT is 1 in 40.000-100.000 live births. 4 Clinical findings such as gait, balance, coordination, and speech disorders are seen in AT.…”

Section: Introductionmentioning

confidence: 99%

Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

Turhan,

Özcelep,

Karaçay

et al. 2023

SYBD

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Objective: Ataxia Telangiectasia (AT) also known as Louis-Bar syndrome, is a rare autosomal recessive genetic disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency. This disease is characterized by clinical pictures such as balance, coordination, and gait disorder. This case report aims to examine the short-term effects of physiotherapy and rehabilitation practices consisting of balance and gait exercises on a pediatric patient with AT. Case: A 9-year-old girl diagnosed with AT presented with loss of balance. Sociodemographic data of the patient such as age, height, weight, sex, and BMI were recorded. The patient's balance was evaluated with The Pediatric Balance Scale (PBS), The Functional Reach Test (FRT) and The Timed Get Up and Go Test (TUG); the level of functional independence was evaluated with The Pediatric Functional Independence Scale (WeeFIM). The patient received 30 sessions of physiotherapy 4 times per week for 8 weeks, each session 45-60 minutes. Evaluations were made before and after 8 weeks of treatment. Results: The pre-treatment values were found to be PBS 22, FRT 16 cm, TUG 17.2 sec, and WeeFIM 62. Post-treatment values were calculated as PBS 22, FRT 18 cm, TUG 15.6 sec, and WeeFIM 62. Conclusion: The physiotherapy and rehabilitation approach in patients with AT will be effective in improving symptoms such as balance and coordination disorders.

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Myoclonus

Frucht,

Termsarasab

2024

Movement Disorders Phenomenology

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NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Cited by 8 publications

References 20 publications

DHDDS and NUS1: A Converging Pathway and Common Phenotype

DHDDS and NUS1: A Converging Pathway and Common Phenotype

Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

Myoclonus

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