September 6, 2016: Juvenile Huntington disease

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September 6, 2016

Juvenile Huntington disease (JHD) is characterized by an increased likelihood of rigidity and bradykinesia as the predominant symptoms. Seizures are also sometimes seen. Rigidity is not solely a symptom in the JHD population, however, and some authors posit that JHD should not be considered a separate disease entity but rather as a continuum where earlier the disease onset, the higher likelihood of rigidity-predominant phenotype.1, 2 While all Huntington disease has an autosomal dominant inheritance pattern, JHD is usually paternally inherited. Variable increases in the number of trinucleotide repeats in the Huntington gene have been shown in the sperm of affected males.3

  1. Siesling S, Vegter-van der vlis M, Roos RA. Juvenile Huntington disease in the Netherlands. Pediatr Neurol 1997; 17: 37-43.
  2. Louis ED, Anderson KE, Moskowitz C, Thorne DZ, Marder K. Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults. Arch Neurol 2000; 57: 1326-1330.
  3. Wheeler VC, Persichetti F, Mcneil SM, et al. Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet 2007; 44: 695-701.

Submitted by Ilena George, MD, Department of Neurology, Yale School of Medicine - New Haven.

Dr. George is a member of the Resident and Fellow Section of Neurology®.

 For more clinical pearls and other articles of interest to neurology trainees, visit the Neurology Residents & Fellows page.  Listen to this week's Neurology Podcast.


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