A 40 year old male developed mental changes including irritability, moodiness and antisocial behaviour, and abnormal movements consisting of jerky, hyperkinetic and dystonic movements affecting all parts of the body. An MRI showed atrophy of the frontal lobe, dilatation of the lateral ventricles and a flattened caudate. The family states that his father died of the same disease.

Other lab tests such as glucose, electrolytes, CBC, cholesterol and triglycerides were normal.

1- The major gross feature of this disease is:

A-Necrosis of the mammillary bodies

B-Atrophy of the caudate nuclei and putamen

C-Necrosis of the basal ganglia

D-Atrophic mammillary bodies

E-All of the above

 

2-Microscopically , this process exhibits:

A-Neuritic plaques and tangles

B-Neuronal loss in the neostriatum

C-Pick’s bodies

D-Loss of pigment of the substantia nigra

E-All of the above

 

3-The diagnostic criteria for this disease are:

A-Positive family history

B-Progressive motor disability

C-Gradual dementia

D-Chorea or rigidity

E-All of the above

 

4-Patients with this disease :

A-Have an increased risk of suicide

B-Usually present in the 4th and 5th decades

C-Usually die due to pneumonia or urinary tract infections

D-Usually develop motor symptoms before cognitive dysfunction

E-All of the above

 

5-This is a(n)

A-X-linked disease

B-Autosomal recessive disease

C-Autosomal dominant disease

D-None of the above

 

6-The gene representing this process is located on

A-11p22

B-4p16.3

C-17q11.2

D-3p25-26

E-The gene has not been identified

 

7.The diagnosis in this patient is:

A. Amyotrophic lateral sclerosis

B. Shy-Drager syndrome

C. Huntington disease

D.Kennedy syndrome

E. Krabbe disease