Objective: Describe different movement disorders associated with HSP in a series from the south Spain.

Background: HSP englobe a heterogeneous group of diseases. Different movement disorders have been associated; nevertheless, considered a rare clinical manifestation.

Method: We selected patients with HSP assessed by schematical study protocol, analizing clinical and radiological features, correlated with molecular diagnosis.

Results: We recruited 38 patients from 29 families, with a mean age of onset of 29.16 ±18.38 y, sex predominance male (60.55%), wih early onset in a 68.5% of cases (under 40y). Mean years of evolution of disease 21.16 ±14.05 y. Positive familiar history in 55.9% of cases, inheritance pattern: Autosomal dominant (AD) 47.4%, autosomal recessive (AR) 28.9%. Pure HSP 63.2%, while 36.8% presented complicated HSP. We have reach to the molecular diagnosis in 68.4% of cases: SPG4 (n=14), SPG10 (n=4), SPG54 (HSP-DDHD2) (n=3), SPG11 (HSP- KIAA1840) (n=2), SPG46 (HSP/ATX-GBA2) (n=1). A 18.4% associated other movement disorders such: dystonia 13.2%, tremor 10.5%, parkinsonism 2.6% (SPG11), myoclonus 2.6% (SPG54). The majority of them (71.4%) showed and early onset, and were predominantly associated with AR inherence pattern (57.1%). A 47.9% of the cases with movement disorders showed thin corpus callosum in cranial MRI. Additionally, in 7.5 % of all cases was also present cerebellar ataxia, showing cerebellar atrophy in the cranial MRI.

Conclusion: Movement disorders are presented in a reduce number of cases of HSP, implicating complicated phenotype, associated with an AR pattern in the majority of cases. They should be consider as relevant clinical sings to take into account in the diagnosis approach, especially if there are link to abnormal radiological findings.

References: 1. Rossi M, et al. The genetic nomenclature of recessive cerebellar ataxias. Mov Disord. 2018 Jul;33(7):1056-1076. 2. Sgobbi De Souza et al. Hereditary Spastic Paraplegia:Clinical and Genetic Halmarks. Cerebellum (2017) 16:525-551 2. Synofzik, Matthis, Schüle, Rebecca. Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways. Mov Disord. 2017 March ; 32(3): 332–345.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/associated-movements-disorders-to-hereditary-spastic-paraplegia-hsp-in-a-case-series-from-south-spain/