| Description |
1 online resource (xvi, 205 pages) : illustrations |
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text txt rdacontent |
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computer c rdamedia |
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online resource cr rdacarrier |
| Bibliography |
Includes bibliographical references and index. |
| Note |
Print version record. |
| Contents |
Dedication; Preface; Foreword; Contents; List of contributors; 1 Family experiences: Part I, Diagnosis and early stages; 2 Family experiences: Part II, Later stages; 3 The history of juvenile Huntington's disease; 4 The clinical phenotype of juvenile Huntington's disease; 5 Juvenile Huntington's disease: neuropathology; 6 Molecular mechanisms in juvenile Huntington's disease; 7 Juvenile Huntington's disease and mouse models of Huntington's disease. |
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8 Clinical features of early and juvenile onset in polyglutamine disorders other than Huntington's disease: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy9 The diagnostic challenge; 10 The treatment of juvenile Huntington's disease; 11 Psychosocial issues surrounding juvenile Huntington's disease; 12 Challenges in assessment; Appendices: Proposed scales for juvenile Huntington's disease; 1 JHD total functional capacity; 2 JHD functional assessment; 3 JHD motor assessment; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W. |
| Summary |
Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems includingseizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clini. |
| Language |
English. |
| Subject |
Huntington's disease.
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Genetic disorders in children.
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Trinucleotide repeats.
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Children.
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Adolescent |
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Child |
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Huntington Disease |
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Trinucleotide Repeat Expansion |
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Chorée de Huntington.
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Maladies génétiques chez l'enfant.
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Enfants.
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children (people by age group)
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HEALTH & FITNESS -- Children's Health.
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MEDICAL -- Pediatrics.
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Children
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Genetic disorders in children
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Huntington's disease
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Trinucleotide repeats
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| Added Author |
Quarrell, Oliver.
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| Other Form: |
Print version: Juvenile Huntington's disease. Oxford ; New York : Oxford University Press, 2009 9780199236121 (DLC) 2009280433 (OCoLC)260204659 |
| ISBN |
9780191575280 (electronic bk.) |
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0191575283 (electronic bk.) |
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1283582198 |
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9781283582193 |
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0191753211 |
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9780191753213 |
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9786613894649 |
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6613894648 |
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9780199236121 |
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0199236127 |
| Standard No. |
AU@ 000051584484 |
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AU@ 000062595451 |
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DEBBG BV043169082 |
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DEBSZ 421395850 |
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