Document Detail

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.
MedLine Citation:
PMID:  17562929     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Juvenile Huntington disease (JHD) is a rare clinical entity characterized by an age at onset younger than 20 years. Patients usually have an expansion of more than 60 CAG repeats in the Huntington disease (HD) gene, and the disease is usually inherited from the father. In general, precise age at onset is difficult to assess in HD because of insidious onset and anosognosia. Onset of motor difficulty signs is usually used to define age at onset. OBJECTIVES: To evaluate diagnosis delay in patients with JHD and to analyze the clinical and genetic features of JHD. DESIGN: Retrospective clinical and genetic review. SETTING: Referral center for HD at Salpêtrière Hospital, Paris, France. PATIENTS: Twenty-nine patients with HD with onset before or at age 20 years who carried an abnormal CAG repeat expansion in the HD gene. RESULTS: The mean +/- SD delay before diagnosis was 9 +/- 6 years (range, 0-21 years). The most remarkable signs at onset were severe psychiatric and cognitive disturbances (19 of 29 [65.5%]); rigidity was absent. Unusual signs at onset included myoclonic head tremor in 3 patients, severe isolated drug or alcohol addiction in 2, psychotic disorder in 1, and difficulty writing in 1. One patient had progressive cerebellar signs associated with cerebellar atrophy on cerebral magnetic resonance imaging before signs suggestive of HD appeared. During the course of the disease, psychiatric disturbances were severe, with at least 1 suicide attempt in 7 of 29 patients. Transmission was maternal in 25% of patients. Forty-six percent of patients with JHD had fewer than 60 CAG repeats; 6 of these patients inherited the disease from their father. Anticipation (mean +/- SD, 18 +/- 9 vs 25 +/- 11 years; P = .27) and age at onset (mean +/- SD, 17.14 +/- 2.2 vs 13.29 +/- 5.5 years; P = .09) was similar in patients with maternal compared with paternal transmission, respectively. CONCLUSIONS: Patients with JHD started showing disease symptoms through nonspecific features, mostly psychiatric and cognitive difficulties. This led to misdiagnosis or diagnosis delay, especially in cases without a familial history of HD. Maternal transmissions and expansions of fewer than 60 CAG repeats were unexpectedly frequent in this series and should not be considered exceptional.
Pascale Ribaï; Karine Nguyen; Valérie Hahn-Barma; Isabelle Gourfinkel-An; Marie Vidailhet; Antoine Legout; Catherine Dodé; Alexis Brice; Alexandra Dürr
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of neurology     Volume:  64     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-06-12     Completed Date:  2007-07-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  813-9     Citation Subset:  AIM; IM    
Department of Genetics, Cytogenetics and Embryology, Salpêtrière Hospital, 75013 Paris, France.
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MeSH Terms
Brain / pathology
Cognition Disorders / etiology*
Huntington Disease / diagnosis*,  genetics,  psychology*
Mental Disorders / etiology*,  psychology
Movement Disorders / etiology
Retrospective Studies
Time Factors
Trinucleotide Repeats
Comment In:
Arch Neurol. 2007 Jun;64(6):783-4   [PMID:  17562925 ]

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