1/3. adrenoleukodystrophy. Report of a case with extremely slow progression of symptoms.adrenoleukodystrophy (ALD) is a sex-linked disorder characterized by very long chain fatty acid accumulation in different tissues, but mainly in the adrenal cortex, gonads and nervous system. The typical symptoms are hypoadrenalism, hypogonadism and central and peripheral nervous system impairment due to demyelination. On neurological grounds visual and hearing loss associated with quadriparesis are the most common symptoms, onset in childhood and a rapidly progressive course leading to a vegetative state and death. We report the case of a 31-year-old man affected by ALD, whose neurological symptoms started at the age of 12 and showed a markedly slow progression during the following years.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
2/3. adrenoleukodystrophy: heterogeneity in two brothers.A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.- - - - - - - - - - ranking = 1keywords = x-linked (Clic here for more details about this article) |
3/3. 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) |