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      A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

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          Abstract

          Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

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          Most cited references 7

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          A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

           M Shah,  N Datson,  L Srinidhi (1993)
          The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
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            Juvenile onset Huntington's disease--clinical and research perspectives.

            Huntington's disease (HD) is an inherited neurodegenerative disorder. The mutation which causes the disease is an expansion in the number of repetitions of three nucleotides, C, A, and G in exon 1 of the huntingtin gene. The gene normally has 15 to 30 repeats and an expansion to 40 or more is associated with HD. HD usually has a mid-life onset, but a juvenile form, defined by onset of symptoms before the age of 21 years, is present in about 7% of HD cases. Juvenile HD is characterized by (1) transmission from an HD affected father, (2) an unusually large repeat size, usually of 60 or more units, and (3) unique clinical features, including rigidity and seizure disorder. Although juvenile onset is associated with a more severe neuropathological involvement, the neuropathological characteristics of juvenile HD are similar to those seen in the adult form in that the striatum bears the brunt of the illness. Clumps of protein, termed inclusion bodies, which stain positive for huntingtin and ubiquitin, are found primarily in the nucleus but also in the cytoplasm and axons in HD neurons. Research suggests that these inclusion bodies sequester a deleterious protein fragment and prolong cell life during the degenerative process of the disease. Copyright 2001 Wiley-Liss, Inc.
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              Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature.

              Whereas adult-onset Huntington disease is a well-characterized clinical entity, childhood-onset cases have not received as much attention. In this report, the clinical, demographic, and genetic characteristics in 12 patients with childhood-onset Huntington disease are presented and compared with data in the literature. The patients were divided into two groups based on age at onset of symptoms ( or = 10 years old). The majority of patients had onset of symptoms before 10 years of age and most at or below 5 years of age. The delay in diagnosis was longer in those with earlier onset of symptoms. Inheritance was paternal in all patients with onset beyond 10 years of age. We found a preponderance of male patients in the younger age at onset group and of female patients in the older age at onset group. The most frequent heralding symptom was cognitive decline in the group with earlier onset and oropharyngeal dysfunction in the later-onset group. Seizures occurred only in the younger age at onset group. Chorea was not a presenting sign but developed later in the course of the disease and, with dystonia, was more prevalent in the early age at onset group, whereas rigidity and bradykinesia were more prevalent in the older age at onset group. Patients in both groups developed gait, cognitive, and behavioral disorders at some point during the course of the disease. Furthermore, a slow and steady decline in IQ was observed on serial neuropsychologic testing in patients from both groups. Imaging studies were normal early and most commonly revealed neostriatal atrophy later in the course of the disease. In this report, we describe the characteristics of 12 patients with childhood-onset Huntington disease and review those previously reported, expanding our knowledge about the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype within patients with childhood-onset Huntington disease depending on the age at onset.
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                Author and article information

                Journal
                J Mov Disord
                J Mov Disord
                JMD
                Journal of Movement Disorders
                The Korean Movement Disorder Society
                2005-940X
                2093-4939
                October 2010
                30 October 2010
                : 3
                : 2
                : 45-47
                Affiliations
                Department of Neurology, Seoul National University Hospital, Seoul, Korea
                Author notes
                Corresponding author: Manho Kim, MD, PhD, Department of Neurology, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Korea, Tel +82-2-2072-2193, Fax +82-2-3672-7553, E-mail kimmanho@ 123456snu.ac.kr
                jmd-3-2-45-5
                10.14802/jmd.10012
                4027671
                Copyright © 2010 The Korean Movement Disorder Society

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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