Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

• Main Authors: Cláudia R. C. Galvão, Priscilla M. A. Cavalcante, Ricardo Olinda, Zodja Graciani, Mayana Zatz, Fernando Kok, Silvana Santos, Selma Lancman
• Format: Article
• Language: English
• Published: BMC 2019-10-01
• Series: BMC Neurology
• Subjects: Spastic paraplegia; Optic atrophy; Rare diseases; Longitudinal survey
• Online Access: http://link.springer.com/article/10.1186/s12883-019-1465-5

Abstract Background Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. Methods This 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. Results The 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). Conclusions Our 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.