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.