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P1‐054: Clinical and genetic study of a large spg4 italian family with hereditary spastic paraplegia and early‐onset familial Alzheimer's disease
Author(s) -
Lo Giudice Temistocle,
Casella Antonella,
Mearini Marzia,
Montecchiani Celeste,
Miele Marialuisa,
Kawarai Toshitaka,
Orlacchio Antonio
Publication year - 2015
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2015.06.251
Subject(s) - hereditary spastic paraplegia , medicine , disease , spasticity , family history , progressive supranuclear palsy , age of onset , genetic heterogeneity , pediatrics , genetics , pathology , biology , phenotype , gene , physical medicine and rehabilitation
the Assessment of Neuropsychological Status (RBANS) was also evaluated for the PREVENT-AD cohort. Results: In the QFP, the 299Gly allele was present in 6.3% of LOAD cases and 10.7% of aged-matched control subjects (p 0.005). Healthy subjects enrolled in the PREVENT-AD study (with a first-degree family history of AD) were positive for the 299Gly allele in a proportion of 12.5%. In ADNI, the 299Gly allele was detected in 9.5% of AD cases, 9.9% ofMCI patients and 11.2% of control subjects (baseline diagnostic, p 0.05). Although not associated with the disease in the latter population, the 299Gly allele significantly correlated with higher CSF APOE levels measured in MCI patients. In unaffected subjects from the PREVENT-AD cohort, the 299Gly allele was significantly associated with enhanced cortical thickness and a higher RBANS visuospatial score. Conclusions: The presence of the 299Gly allele is clearly associated with neuroprotection. Targeting TLR4 signaling pathway could be considered for pharmacological intervention to prevent Alzheimer’s disease.