Juvenile Huntington Disease

2017 ◽  
pp. 1-5
Author(s):  
Jaeson Kaylegian ◽  
Scott J. Hunter
Keyword(s):  
Huntington Disease ◽  
Juvenile Huntington Disease

scholarly journals Patients With Extreme Early Onset Juvenile Huntington Disease Can Have Delays in Diagnosis: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110361
Author(s):  
Ashley A. Moeller ◽  
Marcia V. Felker ◽  
Jennifer A. Brault ◽  
Laura C. Duncan ◽  
Rizwan Hamid ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Huntington Disease ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Cerebellar Atrophy ◽  
Cag Repeats ◽  
Ataxic Gait ◽  
Repeat Expansions ◽  
Delays In Diagnosis ◽  
Juvenile Huntington Disease

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.

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

2007 ◽  
Vol 64 (6) ◽  
pp. 813 ◽  
Author(s):  
Pascale Ribaï ◽  
Karine Nguyen ◽  
Valérie Hahn-Barma ◽  
Isabelle Gourfinkel-An ◽  
Marie Vidailhet ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Disease Onset ◽  
Cognitive Difficulties ◽  
Juvenile Huntington Disease

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

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

Juvenile Huntington Disease: Pediatric Neurologist—Look at the Neuroimage

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

DNA analysis in juvenile Huntington disease

1989 ◽  
Vol 148 (5) ◽  
pp. 447-449 ◽  
Author(s):  
M. Sch�mig-Spingler ◽  
J. Hammer ◽  
K. Kruse
Keyword(s):  
Huntington Disease ◽  
Dna Analysis ◽  
Juvenile Huntington Disease

Juvenile Huntington disease

2006 ◽  
Vol 42 (9) ◽  
pp. 552-554 ◽  
Author(s):  
Nimeshan Geevasinga ◽  
Fiona H Richards ◽  
Kristi J Jones ◽  
Monique M Ryan
Keyword(s):  
Huntington Disease ◽  
Juvenile Huntington Disease

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

2011 ◽  
Vol 155 (4) ◽  
pp. 815-818 ◽  
Author(s):  
Gaël Nicolas ◽  
Didier Devys ◽  
Alice Goldenberg ◽  
David Maltête ◽  
Catherine Hervé ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Huntington Disease ◽  
Global Developmental Delay ◽  
Cerebellar Volume ◽  
Juvenile Huntington Disease

J36 Juvenile Huntington Disease In Voronezh Families

2014 ◽  
Vol 85 (Suppl 1) ◽  
pp. A77-A77
Author(s):  
S. Kurbatov ◽  
V. Fedotov ◽  
N. Galeeva ◽  
V. Zabnenkova ◽  
A. Polyakov
Keyword(s):  
Huntington Disease ◽  
Juvenile Huntington Disease
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