The reference OMIM entry for this protein is 270750

Spastic paraplegia 23; spg23
Spastic paraplegia with pigmentary abnormalities
Spastic paraparesis, vitiligo, premature graying, characteristic facies
Lison syndrome

CLINICAL FEATURES

Abdallat et al. (1980) and Lison et al. (1981) reported a consanguineous Jordanian family in which 2 brothers and a sister from first-cousin parents had progressive spastic paraparesis and peripheral neuropathy, as well as disordered skin and hair pigmentation, including vitiligo, hyperpigmentation, numerous lentigines, and premature graying of body hair. 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. The face was thin with 'sharp' features. The syndrome was considered to be autosomal recessive. Stewart et al. (1981) described 2 sisters and a brother and 2 daughters of 1 of the affected sisters who had spastic paraplegia, peroneal neuropathy and crural hypopigmentation mainly about the knees and in the upper pretibial area. Daras et al. (1983) described 2 brothers and a sister from first-cousin parents who had progressive spastic paraplegia and cerebellar ataxia together with large hyperpigmented nevi on the legs. In an inbred Arab family in Israel, Mukamel et al. (1985) observed 4 affected sibs. All 4 sibs had severe incapacitating spastic paraparesis from early childhood, combined with abnormalities of skin and hair pigmentation. Two other sibs with similar dermatologic findings died at the ages of 3 and 4 months of sepsis. The proband, a 13-year-old boy, had microcephaly, canities, many cafe-au-lait spots and freckles all over his body, and spastic paraplegia. White hair was present from birth. Blumen et al. (2003) presented follow-up information on the family reported by Mukamel et al. (1985). The 4 affected sibs ranged in age from 22 to 32 years, and all had a prematurely aged facial appearance, with white scalp from birth and premature graying of eyebrows and eyelashes. Skin was hypopigmented in covered areas, with patchy, vitiligo-like depigmentation in sun-exposed areas. All affected sibs had severe weakness and spasticity of the lower extremities and mild cognitive impairment. Bamforth (2003) described an 18-year-old girl of northern European ancestry with acquired hypopigmentation and neurologic abnormalities. Her parents were not consanguineous and had 4 other healthy children. The patient's features included vitiligo, diffuse lentigines, increased deep tendon reflexes, spastic gait, kyphoscoliosis, small stature, and normal intelligence. Mode of inheritance was not clear.

MAPPING

In an inbred affected Arab family first reported by Mukamel et al. (1985), Blumen et al. (2003) found linkage of the disorder to a 25-cM region on chromosome 1q24-q32 (maximum lod score of 3.05 near marker D1S2692). Haplotype analysis showed allele homozygosity in all affected members. ... More on the omim web site

Subscribe to this protein entry history

Feb. 23, 2019: Protein entry updated
Automatic update: model status changed

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).

Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 270750 was added.