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Neurogenetics

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06.12.2017 | Review Article

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

verfasst von: Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M. Santorelli

Erschienen in: Neurogenetics | Ausgabe 1/2018

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Abstract

One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by high clinical and genetic heterogeneity, is among the diseases that present this challenge. HA can have features overlapping with those of other neurological diseases, especially hereditary spastic paraplegia (HSP), as routine clinical application of next generation sequencing (NGS) has confirmed. This article reviews different NGS methods applied in heterogeneous cohorts of patients with suspected HA and suggests that exome sequencing should be considered the first-tier genetic approach in this setting. Its application lends support to the hypothesis of HA and HSP as two extremes of a continuous spectrum.

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Titel: Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
verfasst von: Daniele Galatolo
Alessandra Tessa
Alessandro Filla
Filippo M. Santorelli
Publikationsdatum: 06.12.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 1/2018
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-017-0532-6

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Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

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