X-linked dystonia parkinsonism as a cause of isolated lingual dystonia (ILD).

Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review

Cranio-cervical involvement and prominent bulbar symptoms may represent important clinical clues suggesting DYT-THAP1 in patients with generalized dystonia, highlighting the importance of careful phenotypic characterization.

Familial case of rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, DYT12)

Rapid-onset dystonia-parkinsonism (RDP) is one of the best-known and most frequently encountered phenotypes of ATP1A3-associated disorders. It is characterized by acute or subacute onset of dystonia, parkinsonism, and bulbar symptoms, typically triggered by provoking factors such as fever, infections, or physical exert...

Case Report: Neonatal-onset parkinsonian-pyramidal syndrome caused by novel compound heterozygous FBXO7 variants

Background Early-onset parkinsonism is often associated with genetic factors. Pathogenic variants in the FBXO7 gene are a rare cause of early-onset parkinsonism, typically presenting as parkinsonian-pyramidal syndrome (PPS), also known as Parkinson's disease-15 (PARK15). To date, only three cases of infantile-onset PAR...

GNAL-associated dystonia: clinical spectrum, genetic features, and genotype-phenotype correlations.

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

Biallelic KCNJ10 variants, encoding the Kir4.1 potassium channel, can cause cerebellar ataxia variably associated with intellectual disability, renal tubulopathy, sensorineural hearing loss and epilepsy (EAST or SeSAME syndrome, MIM:612780). 1,2 The predominant movement disorder, cerebellar ataxia, is typically non-pro...

Late-Onset Huntington’s Disease: A Rarely Recognized Cause of Chorea in an African Patient

Introduction: Huntington’s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene, leading to progressive motor, cognitive, and psychiatric decline. Although well described globally, HD remains underreported in sub-Saharan Africa, where limited awareness an...