PuSH - Publikationsserver des Helmholtz Zentrums München: AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

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Garavaglia, B.* ; Vallian, S.* ; Romito, L.M.* ; Straccia, G.* ; Capecci, M.* ; Invernizzi, F.* ; Andrenelli, E.* ; Kazemi, A.* ; Boesch, S.* ; Kopajtich, R. ; Olfati, N.* ; Shariati, M.* ; Shoeibi, A.* ; Sadr-Nabavi, A.* ; Prokisch, H. ; Winkelmann, J. ; Zech, M.

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Parkinsonism Relat. Disord. 97, 52-56 (2022)

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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.

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INTRODUCTION: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565). METHODS: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken. RESULTS: Novel biallelic, likely pathogenic loss-of-function alleles were identified in two pedigrees of different ethnic background. Two members of a consanguineous Iranian family shared a homozygous c.1917-1G>A essential splice-site variant and featured presentations of adolescence-onset generalized dystonia. An individual of Chinese descent, homozygous for the nonsense variant c.1909G>T (p.Glu637*), displayed childhood-onset generalized dystonia combined with later-manifesting parkinsonism. One additional Iranian patient with adolescence-onset generalized dystonia carried an ultrarare, likely protein-damaging homozygous missense variant (c.1201C>T [p.Arg401Trp]). CONCLUSIONS: These findings support the implication of AOPEP in recessive forms of generalized dystonia and dystonia-parkinsonism. Biallelic AOPEP variants represent a worldwide cause of dystonic movement-disorder phenotypes and should be considered in dystonia molecular testing approaches.

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