ABSTRACT
OBJECTIVE: To describe a novel mutation (K239N) in the PSEN1 associated with familial Alzheimer's disease (AD). METHODS AND RESULTS: The proband was a man who developed cognitive decline with marked behavioural abnormalities at age 57. At age 70, he was admitted into a psychiatric facility because of aggressiveness and a suicide attempt. Family history was consistent with autosomal dominant AD. One of the two other family members studied presented also with prominent behavioural symptoms at age 42 and has also been forced into a psychiatric facility because of aggressiveness at age 56. The remainder patient has presented a prototypical AD, but starting at age 71. Direct sequencing of PSEN1 in the three living affected members disclosed a heterozygous G to C transition in exon 7 of PSEN1 leading to the K239N mutation. CONCLUSION: The K239N mutation is associated with autosomal dominant AD with a wide range of age of onset and incomplete penetrance at the age of 65, prominent behavioural features and slow progression.
Subject(s)
Alzheimer Disease/genetics , Genetic Predisposition to Disease/genetics , Mutation/genetics , Presenilin-1/genetics , Age of Onset , Aged , Alzheimer Disease/epidemiology , Alzheimer Disease/pathology , Disease Progression , Female , Humans , Male , Middle Aged , PedigreeABSTRACT
The association between frontal dementia and motor neurone disease has been known for years now although its existence as a nosologic entity in its own right is still subject to debate. Lack of strict histological criteria and inspecificity in complementary tests which might otherwise lend weight to such a diagnosis prevent our considering it as much more than a mere clinical syndrome. We present here the case of a 56 year old female patient who developed a type of dementia with frontal characteristics associated with motor neurone disease. We discuss the clinical picture and review the relevant literature.
Subject(s)
Dementia/complications , Dementia/physiopathology , Frontal Lobe/physiopathology , Motor Neuron Disease/complications , Dementia/diagnosis , Diagnosis, Differential , Female , Humans , Middle Aged , Motor Neuron Disease/diagnosisABSTRACT
We report two cases of encephalopathy with cortical blindness associated with reversible bioccipital lesions in transplanted patients (of the kidney and bone marrow) who were being treated with cyclosporin A. We briefly discuss the pathogenesis of symptoms and review the literature.