No abstract

Background: Hyperhomocysteinemia (HHcy) is a well-established risk factor for vascular thrombosis leading to stroke. Homocysteine (Hcy) is mainly synthesized in the methionine cycle, and it is an intermediate during the conversion of methionine to cysteine. HHcy can develop by polymorphism of several enzymes like methylene-tetrahydrofolate-reductase (MTHFR) mutation and due to deficiency of co-factor Vitamins such as B12, B6, and folic acid. This study was planned to see the association between HHcy and MTHFR gene polymorphism in patients with stroke in populations from central India. Methods: Seventy-two patients diagnosed with stroke aged 18 years and above who met the inclusion criteria were selected. Hcy level and MTHFR mutation were identified among patients of stroke. Results: Forty-two patients (58.33%) were diagnosed with acute ischemic stroke as compared to cerebral venous thrombosis (30, 41.66%) from a total of 72 patients. The statistical analysis projected that the HHcy diagnosed among more (45, 62.5.0%) cases with stroke who had aged ≤45 years as compared to cases who had aged >45 years (17, 23.6%). None of our patients tested positive for either CT (Heterozygous) or TT(Homozygous) genotypes. Conclusions: HHcy is not associated with MTHFR gene mutation in our study group, and this possibly is related to the deficiency of co-factors in Hcy metabolism. Young age group stroke patients have higher Hcy levels.

Spinocerebellar ataxia 17 (SCA 17) has been recognized as one of the most heterogeneous forms of autosomal dominant cerebellar ataxia (ADCA), with a wide clinical spectrum at presentation. SCA17 presenting as Huntington disease like-4 (HDL-4) phenotype has been observed only sporadically or in solitary individuals within a family. We report the case of a young Indian male who presented with juvenile Parkinsonism (HDL like phenotype) features without family history subsequently diagnosed as SCA17.