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Movement disorders

Are umbrella terms for rare genetic diseases still useful?

A recent study of clinical and genetic characteristics in patients with hereditary spastic paraplegia highlights the difficulties of making clinicogenetic correlations in a heterogeneous group of diseases. Genetic analysis beyond the causative variants, and independent of the core clinical symptoms (pyramidal signs versus ataxia), might offer a more pertinent way to approach phenotypic variability.

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Figure 1: Phenotypic variability in a genetic spectrum.


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Correspondence to Alexandra Durr.

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The author declares no competing financial interests.

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Durr, A. Are umbrella terms for rare genetic diseases still useful?. Nat Rev Neurol 12, 321–322 (2016).

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