Huntington's Disease : A Report of an Interesting Case and Literature Review
Copyright © 2024, Sharma et al..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:16 |
|---|---|
| Enthalten in: |
Cureus - 16(2024), 3 vom: 30. März, Seite e55443 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Sharma, Praveen K [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Basal ganglia |
|---|
| Anmerkungen: |
Date Revised 04.04.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.7759/cureus.55443 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM370566785 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM370566785 | ||
| 003 | DE-627 | ||
| 005 | 20240404235552.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240404s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.7759/cureus.55443 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1365.xml |
| 035 | |a (DE-627)NLM370566785 | ||
| 035 | |a (NLM)38567236 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Sharma, Praveen K |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Huntington's Disease |b A Report of an Interesting Case and Literature Review |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 04.04.2024 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2024, Sharma et al. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a basal ganglia | |
| 650 | 4 | |a chorea | |
| 650 | 4 | |a computed tomography | |
| 650 | 4 | |a gabaergic neurons | |
| 650 | 4 | |a huntington disease | |
| 650 | 4 | |a magnetic resonance imaging | |
| 700 | 1 | |a Aram, Arun |e verfasserin |4 aut | |
| 700 | 1 | |a Polaka, Yashaswinii |e verfasserin |4 aut | |
| 700 | 1 | |a Pandian, Vinoth |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cureus |d 2013 |g 16(2024), 3 vom: 30. März, Seite e55443 |w (DE-627)NLM24118083X |x 2168-8184 |7 nnns |
| 773 | 1 | 8 | |g volume:16 |g year:2024 |g number:3 |g day:30 |g month:03 |g pages:e55443 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.7759/cureus.55443 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 16 |j 2024 |e 3 |b 30 |c 03 |h e55443 | ||