THE NEUROLOGY

Multiple Choice Questions in Neurology: True and False statements about Kennedy Syndrome: CAG repeat Gynecomastia Testicular atrophy Peripheral neuropathy Ocular muscle involvement Kennedy's Disease Inheritance X-linked recessive disorder Trinucleotide repeat: CAG gene Clinical Features Slowly progressive limb-girdle type muscle weakness Slowly progressive bulbar dysfunction Early tremor Muscle cramps Fasciculations Marked abnormal sensory nerve conduction study Degeneration of both motor and sensory neurons Lower motor neurons signs Elevated serum creatine kinase Abnormal sex hormone levels Gynecomastia Testicular atrophy Diabetes mellitus Note: Extraocular muscles are spared. References: Fischbeck, K. H. "Kennedy disease." Journal of inherited metabolic disease 20.2 (1997): 152-158. Sperfeld, Anne D., et al. "X-linked bulbospinal neuronopathy: Kennedy disease." Archives of Neurology 59.12 (2002): 1921-1926. [Answers are A. CAG repeat-True, B. Gynecomastia-True...

Multiple Choice Questions in Neurology: Somatic cells form by two copies of alleles during the fertilization, one copy inherited from each parent. However, if gene expression occurs from only one allele i.e. one parent, is called genomic imprinting. Which of the following is/are associated with genomic imprinting disorders? Fragile X Syndrome Angelman Syndrome Myotonic Dystrophy Prader Willi Syndrome Huntington's Disorder Genomic Imprinting Disorders Normally, somatic cells form by two copies of alleles during the fertilization, one copy inherited from each parent. However, if gene expression occurs from only one allele i.e. one parent, is called genomic imprinting. Epigenetic phenomena do not involve alterations in the DNA sequence. It usually affects functional activity and expression of genes. Genomic imprinting is an epigenetic phenomena. Imprinted alleles/genes of the parent are silent. Only non-imprinted alleles/genes of parents are expressed in children. Imprinted alleles/ge...