Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH. Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2. JAMA Neurol. 2013 Aug 19; PubMed.
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K.U. Leuven and VIB
These are puzzling cases indeed. Do these patients have ALS or a different clinical presentation of SCA2? How should we classify such patients? Intermediate repeat expansions have been identified as a genetic risk factor for ALS, while true (longer) expansions are encountered in rare sporadic and familial ALS cases and probably should be considered as a rare true cause of ALS. Thus, disease presentations of SCA and ALS within the same family are possible. That tallies with the concept that ALS is a clinical syndrome with heterogeneous etiologies, rather than a distinct disease entity.
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