Familial Alzheimer's disease

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Abstract
Familial occurrences of Alzheimer''s disease have been considered unusual, but detailed examination of families within which sporadic cases occur may reveal to a greater extent the operation of hereditary factors in this condition. This investigation deals with a family with 13 persons manifesting a clinical syndrome which could not be classified simply as presenile dementia, but rather as a constellation of neurologic and psychiatric signs and symptoms. Prominent features are forgetfulness, seizures, myoclonus, plastic rigidity, immobile facies, and semiflexed posture. All patients were similar in age of onset, course, and duration of illness. Pneumonencephalograms revealed evidence of cortical atrophy and changes in serial electroencephalograms paralleled progression of the disease. Four of the 13 patients were studied from a pathologic point of view and the findings of a plethora of argyrophilic plaques and neurofibrillary and granulovacuolar changes fit the criteria of "Alzheimer''s disease." All available members of the family were examined for possible early signs of Alzheimer''s disease or traits which might be associated with the disease. In the nonpatient family members, no outstanding physical characteristic was noted; however, certain features of the psychodiagnostic tests were common in several relatives which makes them suspect. It is also notable that, independently, these "suspects" showed an abnormal paroxysmal elec-troencephalographic response to hyperventilation. Validation of these suspicions awaits the progress of the disease process to its more obvious clinical manifestations. Analysis of fingerprint patterns and chromosome studies failed to show any specific relationship to the presence or absence of the Alzheimer''s disease syndrome as described here. Blood group data obtained on the patients and their relatives in this family fail to provide evidence in support of linkage of the disease trait with any particular blood group antigen. This study provides a beginning from which needed longitudinal investigations may proceed to gain information which may be helpful in early diagnosis or predicti-bility of morbidity.

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