Pathophysiology of Huntington’s disease

This poster explores the pathophysiological mechanism of Huntington’s disease, a rare clinical condition that causes the progressive breakdown of neurons in the brain. It highlights the genetic causes underlying the disease, the symptoms, and management options. The poster also delves into the pathophysiology of the disease, including the degeneration of neurons in the brain and the drop in neurotransmitters levels.

Pathophysiology of Huntington’s disease
Aim: This poster aims to explore the pathophysiological mechanism of Huntington’s disease. This poster highlights the hypothesized genetic causes underlying the disease.
Introduction
• The caudate nucleus atrophies in Huntington illness,
the inhibitory medium spiny neurons in the corpus
striatum degenerate, and the neurotransmitters
gamma-aminobutyric acid (GABA) and substance P
levels drop (Weis et al. 2019).
• Huntingtin gene mutation include different causes
which can aberrant repear of DNA sequences CAG.
This codes for amino acid glutamine that can resulting
in disease of Huntington.
• Huntingtin refers to a gene product which is a big
protein that contain an extended stretch of resudues
of polyglutamine which are accumulated in neuroans
and can lead to cause illness due to some unknown
methods.
• There is severe symptoms which are manifests with
earlier illness that are due to higher in number of CAG.
• Mutation down and passes the parent throughout
generation (Franich et. al., 2019). It can observe that
CAG repeats frow and can lead to progressivly
phenotypes that are severe in family which are known
as anticipation.
• Huntignton refers to the disease which sumptoms
along with indicators include the appearance gradually
between 35 to 40 years of age which depends on
phenotypic severity.
Pathophysiology
Hence it can be concluded that Huntington's disease is a rare
clinical condition. This can be inherited in individuals and
might induce progressive breakdown or degeneration of the
neurons in the brain. When the parent passes the mutation
down through the generations, there are number of CAG
repeats which may grow and lead to create the situation of
progressively sever phenotypes in faimly. Here, caudate
nucleus are the nucleus atrophies witht he Huntington illness.
There is some neurons which are inhibitory and in medium
spiny which also includes the spiny neurons within crpus
striatum degenerationg along with substance P level drop
includesing GABA. Chorea, athetosis, myoclonic jerks, and
pseudo-tics are all examples of abnormal movements (one
manifestation of tourettism). An inhibitor of the vesicular
monoamine transporter type 2 (VMAT-2) (tetrabenazine,
deutetrabenazine) might be used instead. These medications
work by depleting dopamine and reducing chorea and
• Dementia or mental disorders like a antisocial behaviour,
irritability, sadness full blown bipolar along with
schiophreniform disease that may appear after the
movement condition. This may include suicide, suicidal
thought or others among patient with Huntington disease
which are occurs in general population (Rosenblatt, 2022).
• Athetosis, Chorea, myoclonic jerks along with pseudo-tics
are some of the example of the abnormal moments that
can lead to created such type of symptoms. Here, it may
refers to the term which can help to describe the
symptoms like to eat with generally cause due to
neurologic illness due to use of those medicine (Martinez-
Ramirez et al. 2020).
• It also lead to include repeated phenoteny noises and
gestural gestures which are generally made by people with
chorea. There is a pseudo-tics of Huntington illness which
may include uncontrollable or actual tics (Alpaugh and
Cicchetti, 2021).
• There is a strange which can create a difficulty in grimacing
on face without head thrusting. This my also lead to create
sustaining motor act failure. This also may include tongue
profusion or grabing through the common systems.
• Huntington's disease can be regarded as a rare clinical
condition, this is generally inherited in individuals and is
responsible for causing the progressive breakdown (which can
be defined as degeneration) of the neurons in the brain (Dutta
2020). Huntington's disease might be held responsible for
impacting a person's functional abilities. The disease generally
results in impaired movement status, cognitive or thinking
problems and psychiatric disorders.
• The symptoms of Huntington's disease can be developed at
any time; however, it has been evidenced that individuals
might get this disease at the age of 30s or 40s. In case the
clinical condition starts developing prior the age of 20, it is
referred as juvenile Huntington's disease. The progression of
the disease might be faster in case of early diagnosis of the
Huntington's develops (Hong et al. 2021).
• There are pharmacological substances which are available for
management the symptomatic issues associated with
Huntington's disease. It has also been proven that preventing
the physical, mental as well behavioural impairments cannot
be changed with any pharmacological intervention.
• Huntington refers to the disease which can lead to worsening of
condition where it created difficulty in walking and swelling and
can also impact the severe dementia. In this, there is need to get
admitted in the health care premises where it enforces large
number of patient to get health care services. Due to this, average
life-expectancy includes about 13 to 15 years after onset of
symptoms.
• It has also be an observed that patient with Huntington disease
may also face anxiety and depression along with obsessive
compulsive disorder.
• There are also some indicators and symptoms of these disease
which include positive family history and diagnosis. CAG repeat
the accounts of amount through genetic testing which can help to
confirm about the interpretation of result through observing
genetic testing for Huntington disease.
• Caudate atrophy and frontal-predominant cortical atrophy are
typically detected using neuroimaging (Tong and Yamin 2022).
• White blood cell (WBC) counts must be done often in individuals
taking clozapine because agranulocytosis is a possibility. The
antipsychotic dose is gradually raised until severe side effects
(such as lethargy or parkinsonism) appear or symptoms are under
control.
• An inhibitor of the vesicular monoamine transporter type 2
(VMAT-2) (tetrabenazine, deutetrabenazine) might be used
instead. These medications work by depleting dopamine and
reducing chorea and dyskinesias (Singh et al. 2020).Conclusion
Symptoms
Management
Philpott, A., Fitzgerald, P., Bailey, N., Churchyard, A., Georgiou-Karistianis, N.
and Cummins, T., 2016. A GABBR2 gene variant modifies pathophysiology in
Huntington’s disease. Neuroscience Letters, 620, pp.8-13.
Figure 1: Huntington’s disease pathophysiology

References
• Alpaugh, M. and Cicchetti, F., 2021. Huntington’s disease: lessons from prion disorders. Journal of Neurology, 268(9), pp.3493-
3504.
• Dutta, R., 2020. Central nervous system diseases associated with blood brain barrier breakdown-A Comprehensive update of
existing literatures. Journal of Neuroscience and Neurological Disorders, 4, pp.053-062.
• Franich, N.R., Hickey, M.A., Zhu, C., Osborne, G.F., Ali, N., Chu, T., Bove, N.H., Lemesre, V., Lerner, R.P., Zeitlin, S.O. and Howland,
D., 2019. Phenotype onset in Huntington’s disease knock in mice is correlated with the incomplete splicing of the mutant‐
huntingtin gene. Journal of neuroscience research, 97(12), pp.1590-1605.
• Hong, E.P., MacDonald, M.E., Wheeler, V.C., Jones, L., Holmans, P., Orth, M., Monckton, D.G., Long, J.D., Kwak, S., Gusella, J.F.
and Lee, J.M., 2021. Huntington’s disease pathogenesis: Two sequential components. Journal of Huntington's disease, 10(1),
pp.35-51
• Martinez-Ramirez, D., Walker, R.H., Rodríguez-Violante, M. and Gatto, E.M., 2020. Review of hereditary and acquired rare
choreas. Tremor and Other Hyperkinetic Movements, 10.
• Rosenblatt, A., 2022. Neuropsychiatry of Huntington's disease. Dialogues in clinical neuroscience.
• Singh, B., Sharma, A., Mangat, G., Pandey, S., Siddiqui, M.K. and Sharma, S., 2020. PND2 A Meta-Analysis of Efficacy and Safety
of Vesicular Monoamine Transporter Type 2 Inhibitors for Treatment of Huntington Chorea. Value in Health Regional Issues, 22,
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• Tong, E. and Yamin, G., 2022. Introduction to Molecular Neuroimaging Applications. In Hybrid PET/MR Neuroimaging (pp. 45-
56). Springer, Cham.
• Weis, S., Sonnberger, M., Dunzinger, A., Voglmayr, E., Aichholzer, M., Kleiser, R. and Strasser, P., 2019. Neurodegenerative
Diseases: Huntington Disease. In Imaging Brain Diseases (pp. 1059-1068). Springer, Vienna.
• Wu, Z., Parry, M., Hou, X.Y., Liu, M.H., Wang, H., Cain, R., Pei, Z.F., Chen, Y.C., Guo, Z.Y., Abhijeet, S. and Chen, G., 2020. Gene
therapy conversion of striatal astrocytes into GABAergic neurons in mouse models of Huntington’s disease. Nature
communications, 11(1), pp.1-18.
• Philpott, A., Fitzgerald, P., Bailey, N., Churchyard, A., Georgiou-Karistianis, N. and Cummins, T., 2016. A GABBR2 gene variant
modifies pathophysiology in Huntington’s disease. Neuroscience Letters, 620, pp.8-13.