Evidence map›Paper›PMID 41688735›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Nihal Almenabawy, Fawzia Amer, Laila Selim, Hebatallah M Hassaan

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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Nihal AlmenabawyNeurology and Metabolic Division, Department of Pediatrics, Cairo University Children's Hospital, 2 Ali Pasha Ibrahim Street, Sayeda Zeinab, Cairo, 11511, Egypt. nihal_magdi@cu.edu.eg.ORCID http://orcid.org/0000-0001-9177-2505
Fawzia AmerNeurology and Metabolic Division, Department of Pediatrics, Cairo University Children's Hospital, 2 Ali Pasha Ibrahim Street, Sayeda Zeinab, Cairo, 11511, Egypt.ORCID http://orcid.org/0000-0003-1625-1966
Laila SelimNeurology and Metabolic Division, Department of Pediatrics, Cairo University Children's Hospital, 2 Ali Pasha Ibrahim Street, Sayeda Zeinab, Cairo, 11511, Egypt.ORCID http://orcid.org/0000-0002-6548-6545
Hebatallah M HassaanGenetic Division, Department of Pediatrics, Cairo University Children's Hospital, Cairo, Egypt.ORCID http://orcid.org/0009-0004-3300-040X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDopa-responsive dystonia (DRD) encompasses a group of treatable movement disorders with significant clinical and genetic heterogeneity. Despite being treatable, DRD is often misdiagnosed, leading to delays in therapy.

methodsThis retrospective study aims to describe the clinical and genetic features of seven Egyptian patients from four unrelated families with confirmed DRD. Medical records were reviewed to document clinical data, neuroimaging, and genetic testing.

resultsWe identified six patients with Tyrosine hydroxylase-deficient DRD and one with GTP cyclohydrolase 1 deficiency. The age at onset of initial symptoms ranged from 0.6 to 1.5 years. Universal clinical features included motor delay, weakness, and delayed speech and language development. Neuroimaging findings showed periventricular demyelination in two patients and brain atrophic changes in one. We identified two previously reported variants in the TH gene (c.-70G > A and c.938G > T) and one novel variant in the GCH1 gene (c.343 + 1G > A). All patients, except one, showed a complete response to L-dopa therapy within the first six months of treatment.

conclusionThis first Egyptian cohort highlights DRD as a treatable yet underdiagnosed cause of dystonia in the Middle East. We report a novel GCH1 variant and TH-related type A phenotypes, underscoring the importance of early genetic diagnosis and levodopa therapy.

Indexed as

Dystonic DisordersGTP CyclohydrolaseLevodopaTyrosine 3-MonooxygenaseChildChild, PreschoolEgyptFemaleHumansInfantMaleRetrospective StudiesGCH1 protein, humanGTP CyclohydrolaseLevodopaTyrosine 3-MonooxygenaseDopa-responsive dystonia (DRD)GCH1 geneLevodopa therapyLong-term outcomeTH gene

Identifiers

PMID41688735

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