Genotype and clinical phenotype analysis of a Family with Kennedy disease.

To investigate the clinical phenotype-genotype correlations of a family with Kennedy disease (KD) and improve our understanding of the disease. KD was confirmed after clinical phenotypic analyses, laboratory tests, polymerase chain reaction assays for cytosine-adenine-guanine (CAG) repeats, and neuro-electrophysiological tests. The disease was assessed using the KD1234 scale and the spinal and bulbar muscular atrophy functional rating scale.

PI3K polymorphism in patients with sporadic Parkinson's disease.

Parkinson's disease (PD) is a common irreversible neurodegenerative disease associated with cognitive impairment. To investigate the serum level of phosphatidylinositol-3-kinase (PI3K) and the distribution of the genotypes and alleles of 3 PI3K single-nucleotide polymorphisms (RS37,30,087, RS37,30,088, and RS37,30,089) in PD patients with different clinical characteristics. A total of 54 PD patients and 50 healthy individuals were recruited.