Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients

Huntington disease (HD) is caused by a pathologic cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the HTT gene. Typical adult-onset disease occurs with a minimum of 40 repeats. With more than 60 CAG repeats, patients can have juvenile-onset disease (jHD), with symptom onset by the age of 20 years. We report a case of a boy with extreme early onset, paternally inherited jHD, with symptom onset between 18 and 24 months. He was found to have 250 to 350 CAG repeats, one of the largest repeat expansions published to date. At initial presentation, he had an ataxic gait, truncal titubation, and speech delay. Magnetic resonance imaging showed cerebellar atrophy. Over time, he continued to regress and became nonverbal, wheelchair-bound, gastrostomy-tube dependent, and increasingly rigid. His young age at presentation and the ethical concerns regarding HD testing in minors delayed his diagnosis.

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I10 Cross-sectional and longitudinal analysis in juvenile huntington disease in italy

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2016-314597.175 ◽

2016 ◽

Vol 87 (Suppl 1) ◽

pp. A62.2-A62

Author(s):

Massimo Marano ◽

Simone Migliore ◽

Sabrina Maffi ◽

Federica Consoli ◽

Ferdinando Squitieri

Keyword(s):

Longitudinal Analysis ◽

Huntington Disease ◽

Cross Sectional ◽

Juvenile Huntington Disease

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J01 Improving Prediction Of Huntington Disease Onset With Clinical And Imaging Measures: A 10-year Preopective Study Of Converters

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2014-309032.184 ◽

2014 ◽

Vol 85 (Suppl 1) ◽

pp. A65-A65

Author(s):

J. Paulsen ◽

J. Long ◽

C. Ross ◽

D. Harrington ◽

C. Erwin ◽

...

Keyword(s):

Huntington Disease ◽

Disease Onset

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Juvenile Huntington Disease: Pediatric Neurologist—Look at the Neuroimage

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2015.07.009 ◽

2017 ◽

Vol 76 ◽

pp. 97

Author(s):

Lúcia H. Coutinho dos Santos ◽

Arnolfo de Carvalho Neto ◽

Salmo Raskin ◽

Isac Bruck

Keyword(s):

Huntington Disease ◽

Pediatric Neurologist ◽

Juvenile Huntington Disease

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DNA analysis in juvenile Huntington disease

European Journal of Pediatrics ◽

10.1007/bf00595910 ◽

1989 ◽

Vol 148 (5) ◽

pp. 447-449 ◽

Cited By ~ 2

Author(s):

M. Sch�mig-Spingler ◽

J. Hammer ◽

K. Kruse

Keyword(s):

Huntington Disease ◽

Dna Analysis ◽

Juvenile Huntington Disease

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Diagnosis of Huntington Disease

Clinical Chemistry ◽

10.1373/49.10.1726 ◽

2003 ◽

Vol 49 (10) ◽

pp. 1726-1732 ◽

Cited By ~ 68

Author(s):

Russell L Margolis ◽

Christopher A Ross

Keyword(s):

Huntington Disease ◽

Clinical Presentation ◽

Neurodegenerative Disorder ◽

Diagnostic Testing ◽

Disease Onset ◽

Test Results ◽

Genetic Test Results ◽

Essential Components ◽

Trinucleotide Expansion ◽

Expansion Mutation

Abstract Background: Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. Methods: We reviewed the literature concerning the molecular diagnosis of HD. Results: The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagnostic tests that can be applied to symptomatic patients, individuals at risk for HD but currently asymptomatic, fetuses, and embryos. However, the unstable nature of the HD mutation, the lack of effective treatments for HD, the mid-adulthood age of disease onset, and the existence of disorders with the same clinical presentation but different etiology all complicates diagnostic testing. Conclusion: Conscientious laboratory work, knowledgeable interpretation of genetic test results, and the availability of pre- and posttest counseling are essential components of HD diagnosis.

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