Clinical and genetic complexity of movement disorders: Practical guide for diagnostics

Author: O. Riess
Submitted: Saturday 25th of September 2010 07:32:03 AM
Submitted by: egf
Educational levels: expert, qc3

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Abstract

Diagnostics of movement disorders is a major challenge in medical genetics. It usually requires the clinical characterization of the patients by neurologists who are trained in rare diseases. However, the overlapping clinical presentation of different diseases, their wide variation of symptoms in particular during manifestation, and their nearly multitudinous genetic heterogeneity makes it difficult even for specialists to come up with diagnostic recommendation. Clearly, genetic differentiation of the diseases is not only important for “categorizing” patients and diseases, but also for medical attendance and family counselling. Already defining the genetic trait of the underlying disease may mentally relieve relatives of affected individuals. In my presentation we will develop together a work flow of clinical and genetic investigation of ataxic and choreatic diseases with special emphasis on how mutation frequencies and side symptoms may guide us to lead us to a genetic diagnosis. However, by demonstration of the clinical manifestation of the respective diseases with short movies I will also draw your attention to the difficulties of a first clinical diagnosis. Brief background information on the pathogenesis of the diseases, as currently known, will be given. As one example how to approach different movement disorders the following table is presented: Guidance for efficient genetic diagnostics based on main clinical signs (taken from Schöls et al. 2004, Lancet Neurology 3:291-304) Clinical sign First line investigations Second line investigations Pure cerebellar SCA6, SCA5 SCA11, SCA14, SCA15, ataxia SCA16, SCA22 Dementia SCA17, DRPLA SCA2, SCA13, SCA19, SCA21 Psychosis DRPLA, SCA17 SCA3, FGF14 (episodes) Epilepsy SCA10, DRPLA SCA17 Chorea DRPLA, SCA17 SCA1 (late stage) Myoclonus DRPLA SCA2, SCA19 Tremor SCA2, SCA8, SCA12 SCA16, SCA21, FGF14 Parkinsonism SCA3, SCA12 SCA2, SCA21 Dystonia SCA3 SCA17 Spasticity SCA3 SCA1, SCA7 Peripheral SCA3, SCA4, SCA1 neuropathy SCA18, SCA25 Ophthalmoplegia SCA3, SCA2, SCA1 Slow saccades SCA2 SCA7, SCA1, SCA3, SCA17 Retinopathy SCA7

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O. Riess. Clinical and genetic complexity of movement disorders: Practical guide for diagnostics. EUROGENE portal. September 2010. online: http://eurogene.open.ac.uk/content/clinical-and-genetic-complexity-movement-disorders-practical-guide-diagnostics

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