CASE

Presentation
Nino Borashvili, group 6
29.04.2022
 TABLE OF

01 02
CONTENTS

Clinical case Etiology and Prevalene

03
Pathogenesis
04
Clinical Symptoms and
Diagnosis

05
Treatment
 PATIENT
MEDICAL
HISTORY

AGE: 46
GENDER: Female

Abnormal dance like movement
which is non- repetitive
Depressive symptoms like sleep
disturbances, low mood, loss of
interest, irritability and fatigue.
Psychotic features like
Suspiciousness,
aggressiveness, poor self-
care, remains aloof, hearing
of voices
Pedigree
Examination
Results

• unclear speech

• increased psycho-motor activity

• delusion of reference and

persecution

• auditory hallucination

• large amplitude dance like

movement in all limbs (chorea)

PCR (CAG) trinucleotide molecular analysis

which showed 21 CAG repeats in one allele and
46 repeats in the second one.
RESULTS of MRI

Investigation – MRI (magnetic resonance

imaging) of brain revealed caudate atrophy

caudate atrophy with ballooning of

frontal horn of lateral ventricles
Huntington disease

Autosomal dominant disorder caused by a mutation in the

gene(located on the short arm (p) of chromosome 4 ) for a
protein called huntingtin

HD commonly affects patients between the ages of 30 to 50

years. One in every 10,000 people is affected in the US.

The defect causes the (CAG) building blocks of DNA to repeat

many more times than is normal.

 The anticipation phenomenon is seen in the paternal line of

inheritance.
Prevalence

 The Maracaibo region of

Venezuela has the
highest reported
worldwide prevalence of
HD (700 per 1 00 000)

A lower prevalence in the Asian population. higher prevalence in Europe, North America, and
Australia. This could be due to the HTT gene haplotypes.
Pathogenesis

• Huntingtin plays a role in protein trafficking,

vesicle transport, transcriptional regulation, and
apoptosis.
• HD pathogenesis results from a gain of function
by an aberrant protein that is widely expressed
in brain and is harmful to some neurons.
Clinical Symptoms
• Motor disturbances
Involuntary movement problems (chorea)
Loss of coordination
• Behavioral and psychiatric symptoms:
Poor attention
Feelings of irritability, sadness or apathy
Frequent thoughts of death, dying or suicide
• Cognitive disturbances
Difficulty in organizing, multitasking, and planning
Dementia
• Difficulty with speech or swallowing
• Difficulty in learning new information
• Social withdrawal
• High risk of developing pneumonia
DIAGNOSIS

Family history

Brain imaging and function

Genetic counseling and testing

Neurological examination Psychiatric evaluation

 Treatment

• The American Academy of Neurology guidelines recommends the use of

 
tetrabenazine (TBZ), amantadine, or riluzole in managing chorea. 

• A referral to speech and language therapists is recommended

• Psychotherapy and cognitive behavioral therapy are beneficial.

• In the presence of overt aggression in association with depression, sedative

antidepressants should be considered.
• FAN1-MLH1 binding regulates
mismatch repair activity and
complex formation.

• FAN1-MLH1 binding regulates

the HTT CAG expansion rate.
REFERENCES

● Kumar P, Suman S, Singh P et.al. A rare case of Huntington’s disease associated with
depression and psychotic features. Int J Health Sci Res. 2020; 10(4):115-118.
● Roos R. A. (2010). Huntington's disease: a clinical review. Orphanet journal of rare
diseases, 5, 40. https://doi.org/10.1186/1750-1172-5-40
● Ajitkumar A, De Jesus O. Huntington Disease. [Updated 2021 Aug 30]. In: StatPearls
[Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-
● Warby, S., Visscher, H., Collins, J. et al. HTT haplotypes contribute to differences in
Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 19, 561–566
(2011). 
● Gil JM, Rego AC. Mechanisms of neurodegeneration in Huntington's disease. Eur J Neurosci.
2008 Jun;27(11):2803-20. doi: 10.1111/j.1460-9568.2008.06310.x. Erratum in: Eur J Neurosci.
2008 Nov
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