A syndrome characterised by spastic paraplegia and pigmentary abnormalities.
Abdallat et al. in 1980 reported a Jordanian family in which 2 brothers and a sister from first-cousin parents had disordered skin and hair pigmentation, progressive spastic paraparesis and peripheral neuropathy. Sural nerve biopsy showed axonal degeneration; skin biopsy showed abnormal epidermal pigmentation. The proband had diffusely depigmented hair and skin at birth. From the age of 6 months, patchy pigmentation developed, especially in exposed areas of the skin, and his hair developed irregular pigmentation. Progressive paraparesis was first noted at age 6 years.
- A. Abdallat, S. M. Davis, J. Farrage, W. I. McDonald:
Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.
Journal of Neurology, Neurosurgery and Psychiatry, London, 1980, 43: 962-966.
- M. Daras, A. J. Tuchman, S. David:
Familial spinocerebellar ataxia with skin hyperpigmentation.
Journal of Neurology, Neurosurgery and Psychiatry, London, 1983, 46: 743-744.
- R. M. Stewart, G. Tunell, A. Ehle:
Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: a new neurocutaneous syndrome.
Neurology, Minneapolis, 1981, 31: 754-757.