Project description:BackgroundGenetic underpinnings in Parkinson's disease (PD) and parkinsonian syndromes are challenging, and recent discoveries regarding their genetic pathways have led to potential gene-specific treatment trials.CasesWe report 3 X-linked levodopa (l-dopa)-responsive parkinsonism-epilepsy syndrome cases due to a hemizygous variant in the phosphoglycerate kinase 1 (PGK1) gene. The likely pathogenic variant NM_000291.4 (PGK1):c.950G > A;p.(Gly317Asp) was identified in a hemizygous state.Literature reviewOnly 8 previous cases have linked this phenotype to PGK1, a gene more commonly associated with hemolytic anemia and myopathy. The unusual association of epilepsy, psychiatric symptoms, action tremor, limb dystonia, cognitive symptoms, and l-dopa-responsive parkinsonism must draw attention to PGK1 mutations, especially because this gene is absent from most commercial hereditary parkinsonism panels.ConclusionsThis report aims to shed light on an overlooked gene that causes hereditary parkinsonian syndromes. Further research regarding genetic pathways in PD may provide a better understanding of its pathophysiology and open possibilities for new disease-modifying trials, such as SNCA, LRRK2, PRKN, PINK1, and DJ-1 genes.

| S-EPMC11078492 | biostudies-literature

Sporadic Fatal Insomnia Presenting with Initial Symptoms of Parkinsonism and Abnormal Dopamine Transporter Imaging.

Project description: Not available

| S-EPMC8810444 | biostudies-literature

Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Project description:Chorea-acanthocytosis (ChAc) is a neurodegenerative condition predominantly manifesting with chorea and often acanthocytes on peripheral blood film. Abnormal appearances with 123I-FP-CIT single-photon emission computed tomography (SPECT) have not previously been reported in ChAc. We describe 2 cases with typical presentations of ChAc and late development of parkinsonism with asymmetric reduction in presynaptic striatal uptake on 123I-FP-CIT SPECT. Case 1, a 50-year-old male, developed micrographia and limb bradykinesia 14 years after initial presentation at the age of 30. Case 2, a 42-year-old female presenting with vocal tics and generalized dystonia at the age of 25, developed tremor, bradykinesia, and rigidity 11 years into the disease course. These cases represent the best description to date of the natural history of ChAc, in which the early hyperkinetic clinical syndromes give way to a parkinsonian phenotype. This is consistent with a gradual deterioration of presynaptic nigrostriatal projections, reflected in the clinical parkinsonism and abnormal 123I FP-CIT SPECT.

| S-EPMC6353500 | biostudies-literature

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Project description: Not available

| S-EPMC6353531 | biostudies-literature

Levodopa Non-Responsive Parkinsonism in Tuberculous Cerebral Arteritis: A Rare Occurrence.

Project description: Not available

| S-EPMC9350756 | biostudies-literature

Late-onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations.

Project description: Not available

| S-EPMC6277373 | biostudies-literature