this patient is a male, 37 years old, original present is with progressive forgetfulness two years ago, then present with abnormal behavior, hallucination, irritability, disorientation. One year later, he began present with slurred speech and unsteadiness while walking (including repeated falls). His symptoms have evolved gradually worse; he is now unable to recognize his immediate family and his speech is very hard to understand. He can not standby and walk by himself. He has had no witnessed tonic-clonic seizures or jerking limb movements, he never complain headache. He has no history of hypertension or diabetes and has not undergone any surgeries or received any transfusions of blood products in the past. He is living in rural area of Northern China and never been left his living area.
The patient's physical examination reveals a well-nourished man of average build, with a pulse rate of 76 bpm, blood pressure of 130/78 mm Hg, a respiratory rate of 14 breaths/min, and a temperature of 98.4°F (36.9°C). He has no thyromegaly, lymphadenopathy, pallor, or jaundice. The cardiac, respiratory, and abdominal examinations are normal. There are no signs of meningeal irritation. The patient responds to calls, but her attention cannot be sustained. He is disoriented to time and place and is unable to identify his wife. It looks he comprehend simple commands, but his speech is very hard to understand. The cranial nerve examination is normal. He moves all limbs briskly but is unable to sit or stand without assistance, and he cannot walk (even with assistance). The patient's muscle tone is increased and reflexes are brisk but symmetric. He responds to pain, but the remainder of his sensory examination cannot be reliably assessed. The Babinski is positive in both sides.
It looks he has a obvious family history. His mother and mother's sisters and his sisters almost have the same age of onset and the same symptoms and time course and all of the patients died around 42 years old.
The genetic family tree is attached.