HUNTINGTON

’S DISEASE
Module – Human Genetics and Healthcare
 What is Huntington’s Disease?
• It is a progressive brain disorder
that breaks down nerve cells in the
brain – Neurodegenerative disorder
(Spiney,2010)

• It affects an individual’s motor,

behavioral and cognitive skills while
resulting in psychiatric disturbances

• It is a monogenic disorder caused by

a genetic mutation at the DNA level
(Kent, 2004)
 Genetic Background
• Caused by a mutation (Somatic Mutation) in the HTT
gene (HD gene) in the 4th chromosome of a human

• HTT gene huntingtin protein

• One region of HTT contains a DNA segment known as

CAG trinucleotide repeat.

• CAG trinucleotide repeat is made with 3 DNA building

blocks which are Cytosine, Adenine and Guanine

• Normal Human – CAG segment is repeated 10 -35 times

within the gene ( Badano & Katsanis,2010)
Genetic Background

• A person with Huntington’s disease –

CAG segment is repeated more than
40 times

• The number of CAG repeats in a

mutated huntingtin gene determines
the age at which a person will develop
Huntington's disease, as well as how
severe the condition will be

• This special type of gene mutation is

known as Repeat Expansion Mutation
(Sturrock & Leavitt,2009)
 Classification of disease status in Huntington’s Disease
Description of Gene CAG Repeat range Risk of HD Risk of HD in next
generation

Normal 26 or less No HD No

High Normal 27 -35 No HD Possible

Reduced Penetrance 36- 39 Possible HD Yes

Full Penetrance 40 or more Possible HD Yes

• The repeated expansion mutation results in an elongated HTT gene which generates the Mutant Huntington
Protein
• This protein damages the normal functioning of neurons
 Mode of Inheritance
• Huntington’s Disease is
inherited in an Autosomal
Dominant pattern

• It occurs in individuals who

have a single mutant allele or
two muted alleles

• Individuals who show

Dominant Homozygous and
Heterozygous conditions will
display the disease
(American Psychological Association, 2013)
Mode of Inheritance

• Individuals can inherit the mutant copy of the

disease-associated gene from either an affected
mother or an affected father

• Affected parents have a 50% chance of passing a

mutant copy of the huntingtin gene on to each of
their offspring,
 Types of Huntington’s Disease

Adult-onset Huntington Juvenile Huntington

disease disease

• The most common type • An early onset form which begins in childhood or adolescence

• Symptoms appear in people in their 30s and 40s • Symptoms can be seen before the age of 20

• Usually live about 15 -20 years after their symptoms • Usually the HTT gene contains more than 60 CAG repeats
begin
• Lives up to 15-20 years after symptoms appear
• Usually the HTT gene contains more than 50 repeats (Spiney,2010)
 SYMPTOMS of Huntington’s Disease

Motor Cognitive

•Chorea •Executive Dysfunction

•Dystonia •Concentration
•Eye movement abnl •Attention
•Gait, balance problems •Multi-tasking
•Rigidity, bradykinesia •Visuospatial Dysfunction
•Dysarthria •Memory Problems
•Dysphagia ( DSM- 5) Psychiatric (DSM- 5)

•Depression , Anxiety
•Obsessions Compulsions
•Hallucinations, Delusions
•Apathy
•Impulsivity
• Suicidal ( DSM – 5)
Prevention
• Huntington’s disease is not curable (American Psychiatric Association, 2013).
• Treatments mainly focus on managing symptoms
• HD treatments are NOT standardized. They are individualized depending on the
severity of the patient
• The only protection for HD comes before birth
• Meeting a Genetic Counsellor for Genetic Testing and Family Planning are the
main preventative methods for people with a family history of the disease
• Any adult having the disease or carrying the disease should consider alternative
methods such as adoption or invitro fertilization as they can pass on the disease
THANK YOU!