Authors: Macedo-Souza, Lúcia Inês; Kok, Fernando; Santos, Silvana; Licinio, Luciana¹; Lezirovitz, Karina¹; Cavaçana, Natale¹; Bueno, Clarissa²; Amorim, Simone²; Pessoa, André²; Graciani, Zodja²; Ferreira, Áurea²; Prazeres, Abdísio³; de Melo, Áurea Nogueira⁴; Otto, Paulo Alberto¹; Zatz, Mayana¹

Source: Annals of Human Genetics, Volume 73, Number 3, May 2009 , pp. 382-387(6)

Publisher: Wiley-Blackwell

Abstract:

Summary

SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive.

Keywords: Spastic paraplegia; optic atrophy; neuropathy; SPOAN; linkage

Document Type: Short communication

DOI: http://dx.doi.org/10.1111/j.1469-1809.2009.00507.x

Affiliations: 1: Human Genome Research Center, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil 2: Department of Neurology, USP School of Medicine, São Paulo, SP, Brazil 3: Ophthalmology Department, USP School of Medicine, São Paulo, SP, Brazil 4: Department of Pediatrics, Federal University of Rio Grande do Norte, Natal, RN, Brazil

Publication date: 2009-05-01

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• By this author: Macedo-Souza, Lúcia Inês ;  Kok, Fernando ;  Santos, Silvana ;  Licinio, Luciana ;  Lezirovitz, Karina ;  Cavaçana, Natale ;  Bueno, Clarissa ;  Amorim, Simone ;  Pessoa, André ;  Graciani, Zodja ;  Ferreira, Áurea ;  Prazeres, Abdísio ;  de Melo, Áurea Nogueira ;  Otto, Paulo Alberto ;  Zatz, Mayana

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