Spastic Paraplegia 23

Alternative Names

  • SPG23
  • Spastic Paraplegia with Pigmentary Abnormalities
  • Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies
  • Lison Syndrome
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

270750

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q24-q32

Description

Patients with SPG23 show a conglomeration of clinical features such as cognitive impairment child-onset spastic paraplegia micrognathia, thin faces, patchy vitiligo, and other pigmentary abnormalities. The latter feature includes premature graying of body hair.

Molecular Genetics

The exact location of the genetic lesion underlying this disorder has not been found. However, SPG23 was linked to a 25-cM region on chromosome 1q24-q32 with a maximum lod score of 3.05 near marker D1S2692.

Epidemiology in the Arab World

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Other Reports

Jordan

Three patient sibs (two brothers and one sister) were described by Abdallat et al. (1980) and Lison et al. (1981). These patients were born to first-cousin consanguineous parents. All patients 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.

Kuwait

Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986-1990). One of the patients was found to be suffering from Lison syndrome.

Palestine

Mukamel et al. (1985) described an inbred Palestinian family with four affected sibs, which have been followed up later by Blumen et al. (2003). All these sibs suffered severe disabling spastic paraparesis from early childhood, combined with abnormalities of skin and hair pigmentation. Blumen et al. (2003) performed a genome-wide linkage screen and managed to link SPG23 to a region of 25-cM on 1q24-q32 with a peak LOD score of 3.05. Molecular analysis showed allele homozygosity in all affected individuals.

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