Premium
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
Author(s) -
MacedoSouza Lucia I.,
Kok Fernando,
Santos Silvana,
Amorim Simone C.,
Starling Alessandra,
Nishimura Agnes,
Lezirovitz Karina,
Lino Angelina M. M.,
Zatz Mayana
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20478
Subject(s) - medicine , paraplegia , spastic , atrophy , muscle contracture , hereditary spastic paraplegia , dysarthria , dysphagia , amyotrophy , pathology , pediatrics , physical medicine and rehabilitation , anatomy , spinal cord , audiology , surgery , genetics , cerebral palsy , biology , psychiatry , gene , phenotype
We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome‐wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of +14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses ∼4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN ( s pastic p araplegia, o ptic a trophy, and n europathy) for this complex syndrome. Ann Neurol 2005;57:730–737