Abstract
BackgroundSpastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.MethodsThis is a prospective longitudinal study performed with 47 patients affected with Spoan syndrome of seven communities of Rio Grande do Norte (Brazil) to investigate changes in motor function based on comparative data obtained from a 10-year follow-up.ResultsThe mean age of the participants was 47.21 ± 12.42 years old, and the mean age at loss of ambulation and hand function were 10.78 ± 5.55 and 33.58 ± 17.47 years old, respectively. Spearman’s correlation analysis between the score on the Modified Barthel Index and the investigated variables evidenced statistical significance for age (p < 0.001) and right- and left-hand grip strength (p = 0.042 and p = 0.021, respectively). Statistical significance was not evidenced for the remainder of the variables, including age at onset of symptoms (p = 0.634), age at loss of ambulation (p = 0.664) and age at loss of hand function (p = 0.118).ConclusionsOur analysis allows asserting that the participants exhibited slight dependence until age 35. The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients become completely dependent. These findings are relevant for determining the prognosis as well as suitable treatment, rehabilitation and assistive technology for these individuals.
Highlights
Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt
The mutation involved consists of a 216-bp microdeletion in the 11q13 chromosome region, which upregulates the expression of the Kinesin light chain 2 gene (KLC2) gene product, a kinesin related to axonal transport [3]
The initial diagnosis of Spoan syndrome is made in the clinic, based on neurological examination, followed by genetic testing aiming at detecting the aforementioned mutation, which is performed at the Centre of Studies of the Human Genome, University of São Paulo
Summary
Optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. Optic atrophy and neuropathy (Spoan syndrome) (OMIM #609641) is an autosomal recessive disease. Individuals with Spoan syndrome exhibit earlyonset progressive spastic paraplegia, resulting in loss of independent ambulation before adolescence, combined with non-progressive congenital optic atrophy. Axonal neuropathy develops over the first decade of life and results in progressive loss of upper limb function, together with other manifestations, such as dysarthria, shortening of muscles and spine deformities [1, 2]. In the area known as Alto Oeste Potiguar, Rio Grande do Norte, Brazil, the prevalence of Spoan syndrome is 1: 250 inhabitants, and it is estimated that 1 in 15 inhabitants are heterozygous carriers of the mutation [4] The initial diagnosis of Spoan syndrome is made in the clinic, based on neurological examination, followed by genetic testing aiming at detecting the aforementioned mutation, which is performed at the Centre of Studies of the Human Genome, University of São Paulo.
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