Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0030552 (
paresis
)
5,831
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Less than 10% of Alzheimer's disease (AD) cases are familial.
Presenilin-1
(
PSEN1
) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordination and axial myoclonus after a parachute accident. At age 32 he was referred to our neurology clinic, presenting cognitive impairment, cerebellar syndrome, axial myoclonus and hypomimia, without other signs of parkinsonism. Because of absence of family history, he was worked up along the line of spinal ataxic disorders. Later, he developed pseudobulbar affect, cognitive deterioration, right upper limb
paresis
and spastic paraparesis. Subsequent investigation identified a
PSEN1
P117L mutation and the diagnosis of autosomal dominant AD was made. This case illustrates the diagnostic challenge imposed by atypical presentation of de novo
PSEN1
mutation, leading to unnecessary investigation. Genetic study might be essential for defining the diagnosis.
...
PMID:Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation. 3056 37
