Huntington’s disease

By: Sachin Kumar M.Pharm. (Pharmacology) Dept. of pharma. sci. M.D.U Rohtak Haryana

CONTENTS

• Introduction• Signs and symptoms• Stages of Huntington’s disease• Causes and risk factors• Pathophysiology• Diagnosis • Treatment of Huntington’s disease• References

Clinical FeaturesClinical Features• Huntington’s disease is a rapidly progressive

neurodegenerative disease that leads to dementia.

• Typically presents with alterations in mood as well as a change in character, defects in memory and attention.

• Progresses to a movement disorder consisting of involuntary, rapid motions.

• Usually not recognized until the patient is in their early 30’s.

• Huntington’s is autosomal dominant.• This means that anyone with ONE abnormal copy

of the gene will clinically have the disease.• There are no carriers for Huntington’s.

• A parent with Huntington’s will have a 50% chance of passing it on to their child.

SIGNS and SYMPTOMS

• Depression 40-80%Anxiety 30-40%Compulsion 10-20%Apathy 20%Episodic Anger commonPsychosis 5%Irritability common

STAGES of HUNTINGTON’S STAGES of HUNTINGTON’S DISEASEDISEASE

There are five stage of HD

1. Preclinical HD2. Early stage

HD 3. Middle stage HD 4. Late stage HD 5. End of life

*HD is caused by a faulty gene that runs in family. *Normal copy of gene produce a protein contain 5 to 35 repeat of trinucleotides CAG called huntingtin protein. *Gene encoding reach more then 35 repeat CAG cause HD. *Faulty huntingtin protein interfere with nerve function and damage nerve cell.

CAUSES and RISK FACTORS

PATHOPHYSOLOGYPATHOPHYSOLOGY

*Striatum(located in basal ganglia) is most affected by HD * Motor control operates through three pathways:

1. Direct pathway2. Indirect pathway 3. Striatonigral pathway

DIRECT AND INDIRECT PATHWAY IN CASE OF HD

STRATONIGRAL PATHWAY

DIGNOSIS of HD

- CT scan (computer tromograhy) -

MRI (magnetic resonance imaging)1.

Genetic testing 2. Genetic testing in pregnancy 3. Preimplantation genetic dignosis.

TREATMENT of HD

HD is incurable. There is no current treatment that can reverse its progression or slow it down.

MEDICATION:1.For movement disorder2.For psychiatric disorder 3.Psychotherapy4.Speech therapy5.Physical therapy

MEDICATIONS

• For movement disorder:-a.

Tetrabenazine b. Antipsychotic drugs: Haloperidol, Chlorpromazine c. Other medication: Amantadine ,

Clonazepam

2. For Psychiatric disorder:

a. Antidepressant: Citalopram, Sertaline, Fluozentine

b. Antipsychotic drugs: Risperidone, Olanzapine

c. Mood stabilizing agent: Valproate, Carbamazipine

References 1: Goodman and Gilman, “The Pharmacological basics of

Therapeutics.” 1st edition, page no.- 562-5642: Huntington’s Disease Society of America centre of Excellence at UC

Davis. June 4, 2013. http://www.ucdmc.ucdavis.edu3: National Center for Biotechnology Information – Entrez Gene http://www.ncbi.nlm.nih.gov/ . 4: Bates, G., Harper, P., & Jones, L. Huntington’s Disease. New York:

Oxford University Press, 2002. pp. 28-37, 276-281.