Journal
ARCHIVES OF NEUROLOGY
Volume 64, Issue 3, Pages 371-376Publisher
AMER MEDICAL ASSOC
DOI: 10.1001/archneur.64.3.371
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Funding
- NIA NIH HHS [P50 AG016574-070004, U01 AG06786, U01 AG006786-23, R01 AG11378, P50 AG16574, R01 AG011378-15, R01 AG011378, U01 AG006786, P50 AG016574] Funding Source: Medline
- NICHD NIH HHS [K12 HD49078, K12 HD049078] Funding Source: Medline
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [K12HD049078] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [U01AG006786, P50AG016574, R01AG011378] Funding Source: NIH RePORTER
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Background: Mutations in the progranulin gene (PGRN) have recently been identified as a cause of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) in some families. Objective: To determine whether there is a difference in the patterns of atrophy in FTLD-U cases with and without PGRN mutations. Design: Case-control study. Setting: Brain bank of a tertiary care medical center. Patients: Eight subjects who had screened positive for PGRN mutations (PGRN-positive) and who underwent volumetric magnetic resonance imaging were identified. Subjects were then matched by clinical diagnosis to a group of 8 subjects with a pathological diagnosis of FTLD-U who had screened negative for PGRN mutations (PGRN-negative). All subjects were then age-matched and sex-matched to a control subject. Main Outcome Measures: Voxel-based morphometry was used to assess the patterns of gray matter atrophy in the PGRN-positive group compared with the PGRN-negative group and compared with controls. Results: The PGRN-positive group showed a widespread and severe pattern of gray matter loss predominantly affecting the frontal, temporal, and parietal lobes. The PGRN-negative group showed a less severe pattern of gray matter loss restricted mainly to the temporal and frontal lobes. On direct comparison, the PGRN-positive group showed greater gray matter loss in the frontal and parietal lobes compared with the PGRN-negative group. Conclusion: Findings from this study suggest that PGRN mutations may be associated with a specific and severe pattern of cerebral atrophy in subjects with FTLD-U.
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