1/3. An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide adenine dinucleotide and guanine triphosphate in red cells.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
2/3. Familial spastic paraparesis and deafness. A new x-linked neurodegenerative disorder.We studied a large kindred with a chronic neurodegenerative disorder, affecting at least six male members in three generations. Spastic paraparesis, beginning at about 10 years of age, and hearing deficits were present in all affected members. Additionally, tremor ophthalmologic abnormalities, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials were seen in some relatives. Although clinically similar to adrenomyeloneuropathy, the plasma and fibroblast levels of saturated very long-chain fatty acids were normal. This syndrome probably represents a new type of familial spastic paraparesis.- - - - - - - - - - ranking = 4keywords = x-linked (Clic here for more details about this article) |
3/3. Familial anterior and posterior lenticonus.A pedigree showing anterior lenticonus, posterior lenticonus and deafness with sex-linked inheritance and the probable gene locus in the short-arm of x chromosome is described.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |