Huntington disease

HUNTINGTON`S DISEASE

Presented By :Ankit M.Sc-3rd semester Brain and cognition scienceBabasaheb Bhimrao Amedkar university Lucknow-226025

INTRODUCTION In the 1872 Dr. George Huntington are

the described neurological disorder. HD gene markers was discovered in

1983 at MGH(Gusella et al.)& ultimately the gene itself discovered by the 1993 by the HD collaborative research group.

They are also known as a Huntington’s chorea.

They are three marked perculiaties of the disease.

1. The heredity nature.2. The tendency of the instantly &

suicide.3. Manifesting itself as a grave

disease in adult life.

SYMPTOMS MovementChorea become more intense they become upset.Gross motor in coordination( gait difficulty and postural imbalance)occur late in the disease course. These involuntary unwanted movements initially occur over distal extremities and face. Muscles contractions , talking & swallowing.

BEHAVIORAL AND PSYCHIATRIC SYMPTOMS Psychiatric symptoms and sign are present in a majority of patients prior to the onset of motor symptoms.The most frequently occurring sign in depression .The incidence of the suicide is estimated to be five to ten times of the general population Patient are the most likely to the attempt suicide around the time of the genetic test and when independence is lost due to disease progression

DEMENTIA AND COGNITIVE SYMPTOMS

Executive Function: cognitive planning and sequencing, spatial working memory, cognitive flexibility and shifting set

Memory : slowed learning rates, impaired delayed free recall which improves significantly with cued recall/recognition, preserved retention rates Over time judgment, memory, and other cognitive functions begin to deteriorate into dementia

NEUROPATHOLOGY(HD) Destroy neurons in areas of the brain and involve

in the emotions, intellect, muscle movement. Progressive loss of the mental abilities. HD involves atrophy and cell death of the basal ganglia,

the complex subcritical structures involved in control of motor movement, cognition and sensory pathways.

As disease progresses, damage to other pathways and dopamine receptors cause decreased stimulation to cortex and thus rigid bradykinetic features.

There is an inverse correction between the number of the CAG repeats in the Huntington’s gene and age at onset.

The disease slowly progress 10 to 20 to years. Huntington's disease usually appear in 30 to 50 years. that genetic mutation that occurs in gene IT-15

located on chromosome 4,alters the hungiston protein which is present in the all human and coursed ‘HD’ . How the mutation of gene IT-15 alters the function of the protein is not well understood.

Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

DEGENERATION OF BASEL GANGLIA

COMPLICATIONS Lack of physical activity, dietary problems,

and eating and swallowing problems can cause constipation, incontinence , and weight loss

Psychiatric and cognitive problems can lead to “social isolation and deep depression”

OVERVIEW OF HUNTINGTON'S DISEASE

TREATMENT

There is ‘NO CURE’ for Huntington's disease

Collaborative goals focus on:

- Reducing symptoms- Preventing complications- Providing support and assistance to the patient and significant others

Family support and moral support

MEDICATIONS Antipsychotics (hallucinations, delusions, violent outbursts): haloperidol, chlorpromazine, olanzapine (contraindicated if patient has dystonia)

Antidepressants (depression, obsessive-compulsive behavior): fluoxetine, sertraline hydrochloride, nortriptyline

Participate In social activity Participate in Physical activity

REFERENCE Text book of movement disorders by

Editor Ashok Kumar (foreword-Anthony E Lang)

Huntington’s disease by David M Lawrence

www.doctorpaul.org Huntington's disease collaborative

research group .

PROBABLY THE MOST FAMOUS PERSON TO SUFFER FROM HUNTINGTON'S WAS WOODY GUTHRIE, THE PROLIFIC FOLK SINGER WHO DIED IN 1967 AT AGE 55.