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Clinical characteristics
F25 Clinical criteria of Huntington's disease phenocopies and cases in Czech Republic
  1. J Klempíř1,
  2. J Židovská2,
  3. J Roth1
  1. 1Department of Neurology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague (Kateřinská 30, Prague, Czech Republic)
  2. 2Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague (Albertov 4, Prague, Czech Republic)

Abstract

Huntington's disease (HD) is well-defined autosomal dominantly inherited disease with motor, cognitive and behavioural abnormalities. There is a small, but significant number of patients with symptoms typical for HD, but without HD mutation. Such cases are named Huntington's disease-like syndromes or Huntington's disease phenocopies (HDP). HDP are clinically and genetically heterogeneous. The aim of our work is to review clinically HDP and to suggest their provisional clinical diagnostic criteria.

HDP provisional clinical diagnostic criteria:

  1. Chorea (may be combined with dystonia or myoclonus),

    1. Behavioral disorders or

    2. Cognitive deficit

  2. Adult onset (>18 years)

  3. Chronic progression

  4. Negative Huntington's disease gene test

The subjects from our genetic database were selected from all patients (n=567) tested for HD in Czech Republic from 1994 to 2007. The HD mutation was confirmed in 416 patients and excluded in 156 patients. 26 from these 156 patients fulfiled our HDP diagnostic criteria. 11 patients from this group are followed up in our movement disorders centre. We diagnosed 3 patients with HDP (McLeod syndrome, adult onset of Niemann Pick type C, Mohr-Tranebjaerg syndrome).

  • Huntington's disease
  • Huntington's disease-like syndromes
  • Huntington's disease phenocopies
  • diagnostic criteria

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