Neuropsychomotor manifestations of juvenile Huntington’s disease
signs and symptoms and imaging findings
DOI:
https://doi.org/10.11606/issn.1679-9836.v98i6p408-414Keywords:
Huntington's Disease, Children's, Juvenile, Cognition disorders, Adolescent, ChildAbstract
Juvenile Huntington’s disease consists of neurodegeneration of nerve cells caused by the formation of the altered protein called huntingtin, accumulated in the cytoplasm and nucleus of neurons, capable of generating progressive death of these cells more clearly in the striatum, which includes the nuclei caudate and putamen. The juvenile variant of Huntington’s disease manifests in patients aged 0 to 20 years, with a variety of motor, cognitive and behavioral disorders. In order to study the most prevalent signs, symptoms and imaging findings, as well as the initial manifestations and the symptomatic evolution during the course of the disease, an integrative literature review was carried out, including a total of 25 articles selected after the adequacy of criteria exclusion and inclusion. After analyzing the data, it was concluded that the most prominent symptoms were muscle stiffness, dysarthria, seizures, bradykinesia and cognitive and behavioral dysfunctions. In terms of imaging findings, atrophy of nuclei of the base and cerebellum prevailed in patients with the most advanced disease and diagnosed in greater time.
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References
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8. Mariana T, Valeria G. Manifestaciones psiquiatricas em enfermedad de Huntington de inicio infantil. Med Infantil. 2015;22(3):243-8. Disponível em: http://www.medicinainfantil.org.ar/images/stories/volumen/2015/xxii_3_243.pdf.
9. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet. 2003 Jul;64(1):70-3. doi: https://doi.org/10.1034/j.1399-0004.2003.00108.x
10. Sunwoo JS, Lee ST, Kim M. A case of juvenile Huntington disease in a 6-yar-old boy. J Mov Disord. 2010;3(2):45-7. doi: 10.14802/jmd.10012.
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12. Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, et al. Neuropathological comparison of adult onset and juvenile Huntington’s disease with cerebellar atrophy: a report of a father and son. J Huntingtons Dis. 2017;6(4):337-48. doi: 10.3233/JHD-170261.
13. Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch Neurol. 2007;64(6):813-9. doi: 10.1001/archneur.64.6.813.
14. Grabska N, Rudzińska M, Wójcik-Pędziwiatr M, Michalski M, Sławek J, et al. Saccadic eye movements in juvenile variant of Huntington disease. Neurol Neurochir Pol. 2014;48(4):236-41. doi: 10.1016/j.pjnns.2014.06.003.
15. Quigley J. Juvenile Huntington’s disease: diagnostic and treatment considerations for the psychiatrist. Curr Psychiatry Rep. 2017;19(2):9. doi: 10.1007/s11920-017-0759-9.
16. Patra KC, Shirolkar MS. Childhood-onset (juvenile) Huntington’s disease: a rare case report. J Pediatr Neurosci. 2015; 10: 276-9. doi: 10.4103/1817-1745.165709.
17. Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, et al. Seizures in juvenile Huntington’s disease: frequency an characterization in a multicenter cohort. Mov Disord. 2012;27(14):1797-800. doi: 10.1002/mds.25237.
18. Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverrière G, et al. Morphological features in juvenile Huntington disease associated with cerebellar atrohpy – magnetic resonance imaging morphometric analysis. Pediatr Radiol. 2018;48(10):1463-71. doi: 10.1007/s00247-018-4167-z.
19. Jessica KL, Kathy M, Bradley S, et al. Measures of growth in children at risk for Huntington disease. Neurology. 2012;79;668. doi: 10.1212/WNL.0b013e3182648b65.
20. Gilberto L, Maria Eduarda N, Vinicius TC, Salmo R, Eliasz E. Juvenile Huntington’s disease confirmed by genetic examination in twins. Arq Neuropsiquiatr. 1999;57(3-B):867-9. doi: http://dx.doi.org/10.1590/S0004-282X1999000500022.
21. Schapiro M, Cecil KM, Doescher J, Kiefer AM, Jones BV. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 2004;34(8):640-3. doi: 10.1007/s00247-004-1159-y.
22. Antonio PV, Francisco CA, Desine B, Carolina CV, Carmela DB, et al. Unusual early-onset Huntingtons disease. J Child Neurol. 2003;18(6):429-32. doi: 10.1177/08830738030180061301
23. Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington’s disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry. 2012;34(4):436.e9-11. doi: 10.1016/j.genhosppsych.2012.02.008.
24. 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;17(1):152. doi: 10.1186/s12883-017-0923-1.
25. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013;48(4):333-4. doi: 10.1016/j.pediatrneurol.2012.12.023.
2. Nicolas G, Devys D, Goldenberg A, Maltête D, Hervé C, et al. Juvenile Huntington disease in a 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. Am J Med Genet A. 2011;155A(4):815-8. doi: 10.1002/ajmg.a.33911.
3. Luis Enrique ME, Jorge Luis O, Yuri T, Yaseth A, Harry P. Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso. Arch Argent Pediatr 2014;112(1):e23-e26. doi: http://dx.doi.org/10.5546/aap.2014.e23.
4. Emilia MG, Virgínia P, José Luiz E, Ana S, Lorena X, et al. Juvenile Huntington disease in Argentina. Arq Neuropsiquiatr (São Paulo). 2016;74(1):50-4. doi: 10.1590/0004-282X20150192.
5. Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D. Huntington disease in a 90-year-old boy: clinical course and neuropathologic examination. J Child Neurol. 2006;21(12):1068-73. doi: 10.1177/7010.2006.00244.
6. Yoon G1, Kramer J, Zanko A, Guzijan M, Lin S, et al. Speech and language delay are early manifestations of juveniline-onset Huntington disease. Neurology. 2006;67(7):1265-7. doi: 10.1212/01.wnl.0000238390.86304.4e.
7. Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006;21(3):223-9. doi: 10.2310/7010.2006.00055.
8. Mariana T, Valeria G. Manifestaciones psiquiatricas em enfermedad de Huntington de inicio infantil. Med Infantil. 2015;22(3):243-8. Disponível em: http://www.medicinainfantil.org.ar/images/stories/volumen/2015/xxii_3_243.pdf.
9. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the detection of large trinucleotide expansions in juvenile Huntington’s disease. Clin Genet. 2003 Jul;64(1):70-3. doi: https://doi.org/10.1034/j.1399-0004.2003.00108.x
10. Sunwoo JS, Lee ST, Kim M. A case of juvenile Huntington disease in a 6-yar-old boy. J Mov Disord. 2010;3(2):45-7. doi: 10.14802/jmd.10012.
11. Heloísa HR, Iscia LG, Tiago LL, Li ML, Fernando C. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr (São Pulo). 2006;64(1):5-9. doi: http://dx.doi.org/10.1590/S0004-282X2006000100002.
12. Latimer CS, Flanagan ME, Cimino PJ, Jayadev S, Davis M, et al. Neuropathological comparison of adult onset and juvenile Huntington’s disease with cerebellar atrophy: a report of a father and son. J Huntingtons Dis. 2017;6(4):337-48. doi: 10.3233/JHD-170261.
13. Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 patients. Arch Neurol. 2007;64(6):813-9. doi: 10.1001/archneur.64.6.813.
14. Grabska N, Rudzińska M, Wójcik-Pędziwiatr M, Michalski M, Sławek J, et al. Saccadic eye movements in juvenile variant of Huntington disease. Neurol Neurochir Pol. 2014;48(4):236-41. doi: 10.1016/j.pjnns.2014.06.003.
15. Quigley J. Juvenile Huntington’s disease: diagnostic and treatment considerations for the psychiatrist. Curr Psychiatry Rep. 2017;19(2):9. doi: 10.1007/s11920-017-0759-9.
16. Patra KC, Shirolkar MS. Childhood-onset (juvenile) Huntington’s disease: a rare case report. J Pediatr Neurosci. 2015; 10: 276-9. doi: 10.4103/1817-1745.165709.
17. Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, et al. Seizures in juvenile Huntington’s disease: frequency an characterization in a multicenter cohort. Mov Disord. 2012;27(14):1797-800. doi: 10.1002/mds.25237.
18. Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverrière G, et al. Morphological features in juvenile Huntington disease associated with cerebellar atrohpy – magnetic resonance imaging morphometric analysis. Pediatr Radiol. 2018;48(10):1463-71. doi: 10.1007/s00247-018-4167-z.
19. Jessica KL, Kathy M, Bradley S, et al. Measures of growth in children at risk for Huntington disease. Neurology. 2012;79;668. doi: 10.1212/WNL.0b013e3182648b65.
20. Gilberto L, Maria Eduarda N, Vinicius TC, Salmo R, Eliasz E. Juvenile Huntington’s disease confirmed by genetic examination in twins. Arq Neuropsiquiatr. 1999;57(3-B):867-9. doi: http://dx.doi.org/10.1590/S0004-282X1999000500022.
21. Schapiro M, Cecil KM, Doescher J, Kiefer AM, Jones BV. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol. 2004;34(8):640-3. doi: 10.1007/s00247-004-1159-y.
22. Antonio PV, Francisco CA, Desine B, Carolina CV, Carmela DB, et al. Unusual early-onset Huntingtons disease. J Child Neurol. 2003;18(6):429-32. doi: 10.1177/08830738030180061301
23. Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington’s disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry. 2012;34(4):436.e9-11. doi: 10.1016/j.genhosppsych.2012.02.008.
24. 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;17(1):152. doi: 10.1186/s12883-017-0923-1.
25. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013;48(4):333-4. doi: 10.1016/j.pediatrneurol.2012.12.023.
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Published
2019-11-27
Issue
Section
Artigos de Revisão/Review Articles
How to Cite
Nogueira, L. A., Rocha, A. E. de O., Vasconcelos, L. M. de, Figueiredo Júnior, J. A. B. de, & Bragato, S. G. R. (2019). Neuropsychomotor manifestations of juvenile Huntington’s disease: signs and symptoms and imaging findings. Revista De Medicina, 98(6), 408-414. https://doi.org/10.11606/issn.1679-9836.v98i6p408-414
