Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation

Neurology

Volumn 60, Issue 1, 2003, Pages 150-151

  Assini, A ^c   Terreni, L ^a   Borghi, R ^c   Giliberto, L ^c   Piccini, A ^c   Loqui, D ^c   Fogliarino, S ^a   Forloni, G ^a   Tabaton, M ^b  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; DNA; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; MALE; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; MOTOR DYSFUNCTION; NEUROPSYCHOLOGICAL TEST; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRAMIDAL SIGN; SINGLE STRAND CONFORMATION POLYMORPHISM; SPASTIC PARAPLEGIA;

EID: 0037435545     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000040252.43269.83     Document Type: Article

References (6)

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2. Kwock J, Taddei K, Hallup M, et al. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 1997;8:1537-1542.
3. Sodeyama N, Iwata T, Ishikawa K, et al. Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). J Neurol Neurosurg Psychiatry 2001;41:556-557.
4. Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 1996;2:864-870.
5. Forloni G, Terreni L, Bertani I, et al. Protein misfolding in Alzheimer's and Parkinson disease: genetics and molecular mechanisms. Neurobiol Aging 2002; in press.
6. Houlden H, Baker M, McGowan, et al. Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations. Ann Neurol 2000;48:806-808.