Objective: Describe clinical features of a Cerebellar Ataxia non-Friedreich case series from southern Spain, and their molecular diagnosis.

Background: Cerebellar Ataxias are a highly heterogeneous group, the diagnosis approach constitute a challenge to neurologist, with most patients having a lack of conclusive molecular diagnosis. To our knowledge no previous case series from southern Spain has been study.

Methods: We selected cerebellar ataxia patients that have been assessed in our Unit through a systematic protocol of study. We analyzed different variables such as inheritance pattern, age of onset, different symptoms and signs, and molecular diagnosis. We compare this variables between early (<40 y) and late (>40 y) onset groups.

Results: We recruited 102 patients with a mean age of onset of 39.24 ±18.91 y, sex predominance male (51%), early onset in 52% of cases. Mean years of evolution of disease 15.64 ±10.89 y, positive familiar history in 55.9% of cases, with a distribution of inheritance pattern as follow: Autosomal dominant 30.4%, autosomal recessive 19.6%, X-link related 5.9%, and the rest 44.1% consider as sporadic in absent of other affected family members. Early onset group preserved independent walking only in 45.3%, while in the late onset group a 51% walk without support. Early onset group also have a large proportion of cases with other neurological signs associated beside than cerebellar signs (69.8% vs 57.1% in the late onset group), being pyramidal signs the most frequents ones. Regarding MRI, 76.9% of early onset group has evident cerebellar atrophy, while only 63.6% of the late onset group has this alteration. We have been able to confirm diagnosis with genetic test in 36.7% of cases. The list of diagnosis in order of frequency is: SCA3 11, FXTAS 8, SPG7 4, NPC 3, Cerebrotendinous xantomatosis 3, SCA23 2, SCA2 2, SYNE1/ARCA1 1, SPG46 1, SCA1 1, ATM 1.

Conclusions: In our case series, syndromes with early onset and autosomic recessive pattern has a major severity, being associated with others neurological signs in most of the cases. Assessed patients with a progressive cerebellar syndrome through a schematic protocol in a specialized unit have provided a molecular diagnosis in a large percentage of cases.

References: Németh AH, Kwasniewska AC, Lise S, et al. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain. 2013;136(10):3106-3118. doi:10.1093/brain/awt236. Synofzik, Matthis, Schüle, Rebecca. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. Movement Disorders. 32- 3. 1531-8257. http://dx.doi.org/10.1002/mds.26944. 10.1002/mds.26944-332- 345. 2017.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-ataxia-case-series-study-from-southern-spain-clinical-and-molecular-description/