A new phenotype linked to SPG27 and refinement of the critical region on chromosome (original) (raw)

Abstract

Hereditary spastic paraplegias are genetically and clinically heterogeneous. Twentysix 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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Author notes

  1. N. Bouslam MS
    Present address: Neurology B and Neurogenetics, Unit Specialties Hospital, Rabat, Morocco

Authors and Affiliations

  1. INSERM U679 (former U289), Hôpital de la Salpêtrière, 47 Bd de l’Hôpital, 75013, Paris, France
    P. Ribai MD, G. Stevanin PhD, N. Bouslam MS, I. Nelson PhD, Ch. Dussert, A. Durr MD, PhD & A. Brice MD
  2. Department of Genetics Cytogenetics and Embryology, AP-HP Salpêtrière Hospital, Paris, France
    P. Ribai MD, G. Stevanin PhD, A. Durr MD, PhD & A. Brice MD
  3. Federation of Neurology, AP-HP Salpêtrière Hospital, Paris, France
    B. Fontaine MD, PhD & A. Brice MD
  4. Salpêtrière Medical School, Pierre and Marie Curie University, Paris, France
    A. Brice MD
  5. Department of Physical Medicine and Functional rehabilitation, Centre Hospitalier de Vierzon, France
    B. Pontier MD
  6. INSERM 546, Federative Institute for Neuroscience Research (IFR70) Salpêtrière Hospital, Paris, France
    B. Fontaine MD, PhD
  7. Centre National de Génotypage, Evry, France
    C. Charon PhD

Authors

  1. P. Ribai MD
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  2. G. Stevanin PhD
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  3. N. Bouslam MS
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  4. B. Pontier MD
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  5. I. Nelson PhD
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  6. B. Fontaine MD, PhD
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  7. Ch. Dussert
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  8. C. Charon PhD
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  9. A. Durr MD, PhD
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  10. A. Brice MD
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Corresponding author

Correspondence to A. Brice MD.

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Ribai, P., Stevanin, G., Bouslam, N. et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome.J Neurol 253, 714–719 (2006). https://doi.org/10.1007/s00415-006-0094-2

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