Huntington's Disease: A Report of an Interesting Case and Literature Review

被引:0
|
作者
Sharma, Praveen K. [1 ]
Aram, Arun [1 ]
Polaka, Yashaswinii [2 ]
Pandian, Vinoth [1 ]
机构
[1] Saveetha Univ, Saveetha Inst Med & Tech Sci SIMATS, Saveetha Med Coll & Hosp, Dept Radiol, Chennai, India
[2] Saveetha Univ, Saveetha Inst Med & Tech Sci SIMATS, Saveetha Med Coll & Hosp, Dept Radiol, Chennai, India
关键词
magnetic resonance imaging; computed tomography; gabaergic neurons; basal ganglia; chorea; huntington disease; CAG REPEAT; CHILDHOOD; BINDING; ONSET; MR;
D O I
10.7759/cureus.55443
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Huntington's disease (HD), referred to as Huntington's chorea, is an infrequent neurodegenerative ailment with an autosomal-dominant inheritance pattern characterized by the progressive deterioration of GABAergic neurons in the basal ganglia. Other ones include subcortical-type dementia, behavioral abnormalities, midlife psychosis, and gradual inadvertent choreoathetosis movements. HD is characterized by atrophy of the dorsal striatum (caudate nucleus and putamen) with concurrent expansion of the frontal horns of the lateral ventricles on imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI). A molecular study validates the diagnosis of HD by identifying the disorder's hallmark amplified CAG triplet. Currently, there is no cure for HD, and treatment focuses on providing supportive care and managing the symptoms. Multidisciplinary approaches involving healthcare professionals, neurologists, and psychiatrists are crucial for comprehensive management. Medications are used to alleviate motor symptoms and manage psychiatric manifestations. Physical and occupational therapies help maintain functional abilities and improve quality of life. Genetic counseling and psychosocial support are essential for patients and their families. An additional crucial objective entails advancing more precise and dependable techniques for the timely identification and assessment of HD. Timely interventions and improved symptom management are made possible by early diagnosis. Based on clinical and imaging findings, we present a case of HD in a 62-year-old female.
引用
收藏
页数:8
相关论文
共 50 条
  • [1] Juvenile Huntington's disease: a case report and literature review
    Reyes Molon, L.
    Yanez Saez, R. M.
    Lopez-Ibor Alcocer, M. I.
    ACTAS ESPANOLAS DE PSIQUIATRIA, 2010, 38 (05): : 285 - 294
  • [2] Sydenham's chorea in a family with Huntington's disease: case report and review of the literature
    Santos-Silva, Rita
    Corujeira, Susana
    Almeida, Ana Filipe
    Granja, Sofia
    Moura, Claudia
    Azevedo, Ines
    Leao, Miguel
    Maia, Ana
    SAO PAULO MEDICAL JOURNAL, 2011, 129 (04): : 267 - 270
  • [3] EEG characteristics in juvenile Huntington's disease: a case report and review of the literature
    Landau, ME
    Cannard, KR
    EPILEPTIC DISORDERS, 2003, 5 (03) : 145 - 148
  • [4] Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review
    Shi-Shuang Cui
    Ru-Jing Ren
    Ying Wang
    Gang Wang
    Sheng-Di Chen
    BMC Neurology, 17
  • [5] Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review
    Cui, Shi-Shuang
    Ren, Ru-Jing
    Wang, Ying
    Wang, Gang
    Chen, Sheng-Di
    BMC NEUROLOGY, 2017, 17
  • [6] ECT Resolving Catatonia in a Huntington's Disease Patient: A Case Report and Review of Literature
    Nichols, Nona A.
    Cinderella, Margaret
    Munjal, Sahil
    JOURNAL OF THE ACADEMY OF CONSULTATION-LIAISON PSYCHIATRY, 2022, 63 : S8 - S9
  • [7] Comprehensive dental treatment of a patient with Huntington's disease: literature review and case report
    Rada, Robert
    SPECIAL CARE IN DENTISTRY, 2008, 28 (04) : 131 - 135
  • [8] Case report and literature review of Huntington disease with intermediate CAG expansion
    Jevtic, Stefan D.
    Provias, John P.
    BMJ NEUROLOGY OPEN, 2020, 2 (01)
  • [9] Juvenile Huntington’s disease: two case reports and a review of the literature
    Sigita Lesinskienė
    Darja Rojaka
    Rūta Praninskienė
    Aušra Morkūnienė
    Aušra Matulevičienė
    Algirdas Utkus
    Journal of Medical Case Reports, 14
  • [10] Juvenile Huntington's disease: two case reports and a review of the literature
    Lesinskiene, Sigita
    Rojaka, Darja
    Praninskiene, Ruta
    Morkuniene, Ausra
    Matuleviciene, Ausra
    Utkus, Algirdas
    JOURNAL OF MEDICAL CASE REPORTS, 2020, 14 (01)