1/6. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.OBJECTIVE: To describe the clinical and molecular genetic analysis of a large family of northern Chinese descent with a mutation at the SCA2 locus causing carbidopa-levodopa-responsive parkinsonism. BACKGROUND: Most causes of parkinsonism remain unknown. However, molecular genetic analysis of families with parkinsonism has recently identified five distinct loci and pathogenic mutations in four of those. Additionally, some of the spinocerebellar ataxia syndromes (SCA), particularly Machado-Joseph syndrome (SCA3), are known to cause parkinsonism. Spinocerebellar ataxia type 2 (SCA2) has not previously been described as causing a typical dopamine-responsive asymmetric PD phenotype. methods: A large family was evaluated clinically and molecularly for apparent autosomal dominant parkinsonism. RESULTS: The phenotype includes presentation consistent with typical dopamine-responsive parkinsonism. Other presentations in this family include a parkinsonism/ataxia phenotype, which is classic for SCA2 and parkinsonism, resembling progressive supranuclear palsy. CONCLUSIONS: patients presenting with a family history of parkinsonism, including familial progressive supranuclear palsy and PD, should be tested for the spinocerebellar ataxia type 2 expansion.- - - - - - - - - - ranking = 1keywords = parkinsonism (Clic here for more details about this article) |
2/6. Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2.We report on 2 brothers, patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, and dysarthria at the ages of 40 and 43 years, respectively. An excellent response to levodopa therapy was observed throughout the disease course. No gait or limb ataxia, slow saccades, or decreased tendon reflexes were detected, but unsteadiness of gait with propulsion developed recently in Patient 1 approximately 25 years after disease onset. magnetic resonance imaging demonstrated mild atrophy of the pons and cerebellum in Patient 1 and cerebellar atrophy in Patient 2. Expanded CAG repeats, numbering 36, in one allele of the ataxin-2 gene were identified in Patient 1 only; his brother was not available for this investigation. With [(99m)Tc]TRODAT-1 single photon emission computed tomography of the brain, a significant bilateral and asymmetrical reduction of striatal dopamine transporters was found in Patient 1 compared to healthy controls. This bilateral reduction of striatal dopamine transporters resembled that observed in a set of controls with Parkinson's disease who had asymmetrical impairment. These results suggest that patients with familial parkinsonism who present with typical Parkinson's disease should be screened for the genetic defect of spinocerebellar ataxia type 2. The presynaptic impairment of nigrostriatal function is very likely to be the reason for levodopa responsiveness.- - - - - - - - - - ranking = 0.38461538461538keywords = parkinsonism (Clic here for more details about this article) |
3/6. SCA-2 presenting as parkinsonism in an alberta family: clinical, genetic, and PET findings.The authors describe an alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.- - - - - - - - - - ranking = 0.53846153846154keywords = parkinsonism (Clic here for more details about this article) |
4/6. SCA2 presenting as levodopa-responsive parkinsonism in a young patient from the United Kingdom: a case report.We report on a young woman from the United Kingdom with L-dopa-responsive parkinsonism with a trinucleotide repeat expansion in her spinocerebellar ataxia 2 (SCA2) gene. The case further extends the phenotype of SCA2 and emphasizes the importance of SCA screening in young-onset parkinsonism, irrespective of ethnic origin.- - - - - - - - - - ranking = 0.46153846153846keywords = parkinsonism (Clic here for more details about this article) |
5/6. Spinocerebellar ataxia type 2 with levodopa-responsive parkinsonism culminating in motor neuron disease.We describe an exceptional spinocerebellar ataxia type 2 (SCA2) phenotype combining cerebellar ataxia, levodopa-responsive parkinsonism, and motor neuron symptoms. We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology.- - - - - - - - - - ranking = 0.38461538461538keywords = parkinsonism (Clic here for more details about this article) |
6/6. Sporadic SCA8 mutation resembling corticobasal degeneration.Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.- - - - - - - - - - ranking = 0.076923076923077keywords = parkinsonism (Clic here for more details about this article) |