Cepeda C, Oikonomou KD, Cummings D, Barry J, Yazon VW, Chen DT, Asai J, Williams CK, Vinters HV. Developmental origins of cortical hyperexcitability in Huntington's disease: Review and new observations. J Neurosci Res. 2019 Dec;97(12):1624-1635. doi: 10.1002/jnr.24503. Epub 2019 Jul 28. PMID: 31353533; PMCID: PMC6801077.
Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to Total Pain in Juvenile Huntington Disease: A Case Report Informed by Narrative Review of the Literature. J Palliat Care. 2019 Jul;34(3):205-207. doi: 10.1177/0825859719835560. Epub 2019 Apr 5. PMID: 30950323.
Objectives: To consider the impact of juvenile Huntington disease (JHD) from a biomedical, symptom burden, and total pain palliative care perspective.
Methods: This case report was informed by a narrative review of the literature with inclusion of expert opinion from pediatric palliative care, an adult and pediatric neurologist, and a child psychiatrist. Audio-recorded qualitative interview and coauthorship with the pediatric patient's primary caregiver (his mother).
Results: The JHD impacts all domains of child and family function.
Significance of results: Application of the concept of total pain to JHD informs and guides care for this complex, challenging condition.
Cui SS, Ren RJ, Wang Y, Wang G, Chen SD. Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review. BMC Neurol. 2017 Aug 8;17(1):152. doi: 10.1186/s12883-017-0923-1. PMID: 28789621; PMCID: PMC5549341.
Background: Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.
Case presentation: A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients.
Conclusion: The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).