Objective: We conducted the first JHD clinical and molecular features in Tunisia and North Africa, contributing to better understanding the diverse manifestation of the disease than previously shown

Background: Huntington’s disease (HD) is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Although HD usually appears in adulthood, a juvenile form (JHD) that usually begins before the age of 21 is present in 5-10% of cases. Recently a more refined terminology to refer specifically to children and young adolescents diagnosed with HD has been adopted. The term “pediatric HD” has been introduced to refer to young people affected by HD who are currently under the age of 18. The genetic diagnosis of HD is confirmed in all patients with a pathological CAG triplet expansion in HTT that exceeds 36 repetitions

Method: From a cohort of 180 HD patients admitted to the National institute Mongi Ben Hmida of Neurology, 4 patients were selected according to three inclusion criteria of Juvenile or Pediatric Huntington’s Disease (JHD or PHD)
After informed consent, genomic DNA was extracted from peripheral blood leukocytes according to standard protocol, and genetic testing for HD was carried out by Triplet-primed PCR  and analyzed with Genemapper Software v3.7.

Results: From 180 HD patients, we include 4 young patients coming from 4 unrelated families and from different regions of Tunisia. Three are Pediatric (Proportion 1.66 %) and 1 Juvenile (Proportion 0.55%)
There are three young girls and one boy (sex ratio 3:1 in favor of female patients). The mean age of onset of HD symptoms was 11±3 years. The disease had affected them in different ways.
For the four cases, three developed seizures associated with psychomotor regression in childhood (PHD), one case had mild chorea of the trunk and arms at onset (18 years) and she developed seizures in early adulthood (JHD). The three PHD cases with seizures have a paternal history of HD whereas the patient who developed seizures at the age of 21 has a maternal history of HD.

Conclusion: Given the complexity of the clinical picture of JHD, we emphasize the challenges of making a disease diagnosis. Furthermore, the number of  CAG repeats suggests that factors other than genetic may contribute to the early manifestation of JHD.
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