Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

Abdallat, A; Davis, Sidney; Farrage, J; McDonald, W. I.

doi:10.1136/jnnp.43.11.962

Cited by 33 publications

(10 citation statements)

References 5 publications

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“…The association of HSP and cutaneous pigmentary abnormalities inherited in an autosomal recessive pattern has been described in our family and a Jordanian family 6–8. Similarities between these two families are striking, and they are probably affected by the same condition, although in our family hypopigmentation was more widespread and mild cognitive impairment and microcephaly were present in some cases (Table 2).…”

Section: Discussionsupporting

confidence: 68%

“…Three siblings in a Jordanian family had diffuse skin and hair depigmentation at birth, with patchy pigmentation appearing after the age of 6 months. A progressive spastic paraplegia developed by the age of 6 years 6, 7. A second family, of Arab Israeli origin, with spastic paraparesis, hypopigmentation, microcephaly, and cognitive impairment was described in 1985 8.…”

mentioning

confidence: 99%

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A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

Blumen

Bevan

Abu-Mouch

et al. 2003

Annals of Neurology

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We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.

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Section: Discussionsupporting

confidence: 68%

mentioning

confidence: 99%

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

Blumen

Bevan

Abu-Mouch

et al. 2003

Annals of Neurology

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“…Allele 5, which is not present in any parent and which differs from allele 4 by only 2 bp probably results from a microsatellite mutation. The genotype was verified several times peripheral neuropathies in SPG3 [11], SPG9 [12], SPG7 [3], SPG14 [15] and SPG23 [1,14] are, on the contrary, purely axonal. Alterations in axonal transport, as in SPG3, SPG4 or SPG10, or myelination, as in SPG2 or Pelizaeus-Merzbacher disease (PMD), underlie the central nervous system dysfunction in these diseases.…”

Section: Discussionmentioning

confidence: 99%

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

et al. 2006

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Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twenty-six loci have been identified to date. SPG27 was recently mapped to chromosome 10 in a single family with autosomal recessive hereditary spastic paraplegia (AR-HSP) and a pure phenotype. We describe a Tunisian family with a complicated form of AR-HSP also linked to SPG27. The parents are first cousins and 3 out of their 4 children manifest early onset progressive spastic paraparesis associated with sensorimotor polyneuropathy. In addition, the eldest girl had facial dysmorphism and short stature (-3SD). Two of the three patients were mentally retarded, and one of these also had cerebellar signs. Their ages at onset were 2, 5 and 7 years. A genome-wide scan suggested linkage to SPG27 on the long arm of chromosome 10 with a multipoint lod score of 2.54. In addition, a recombination detected in this family by haplotype reconstruction reduced the SPG27 locus from 25 to 19.6 cM. This is the first clinical description of a complicated form of spastic paraplegia, characterized by great phenotypic variability among the sibs, associated with the SPG27 locus.

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“…Several other reports have described at least 1 affected member having seizures in a family with HSP (12)(13)(14)(15)(16). Abnormal EEGs, without clinical evidence of epilepsy in family members with HSP, have also been reported (17)(18)(19)(20)(21)(22)(23)(24)(25).…”

Section: Discussionmentioning

confidence: 99%

A Family with Hereditary Spastic Paraparesis and Epilepsy

et al. 1997

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Summary: Purpose:We describe a family with hereditary spastic paraparesis (HSP) in which 4 of 6 affected members also have epilepsy.Methods: All family members were examined by 2 neurologists. Four affected and 3 unaffected family members had EEG recordings. Four affected members were investigated for other causes of spastic paraparesis and epilepsy.Results: Epileptic symptoms varied among family members: 1 had complex partial seizures, another had focal myoclonic epilepsy, and 2 had simple partial seizures secondarily generalized. All 4 had clinical or EEG evidence to support a focal origin for the epilepsy, and 2 had photoparoxysal responses on EEG. Symptoms were more severe and occurred earlier in the younger generation, suggesting genetic anticipation in this family. The onset of epilepsy developed simultaneously with, or G18 years before, onset of gait disturbance. Three unaffected family members had normal EEGs.Conclusions: The association of HSP and epilepsy should no longer be assumed to be fortuitous.

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Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome.

Cited by 33 publications

References 5 publications

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

A new phenotype linked to SPG27 and refinement of the critical region on chromosome

A Family with Hereditary Spastic Paraparesis and Epilepsy

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