Abstract
Background and purpose: Mutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene. Methods: Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation. Clinical and neuropathological data were compared. Results: Twelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81 years of age) but there was no difference in disease duration or clinical examination findings. No neuropathological differences were found in total or regional semi-quantitative scores for Lewy-type synucleinopathy, senile plaques, neurofibrillary tangles, white matter rarefaction or cerebral amyloid angiopathy scores. Conclusions: In longitudinally assessed, autopsied PD cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. Due to the small GBA group size, small differences cannot be excluded.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1363-1368 |
| Number of pages | 6 |
| Journal | European Journal of Neurology |
| Volume | 24 |
| Issue number | 11 |
| DOIs | |
| State | Published - Nov 1 2017 |
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Keywords
- genetics
- glucocerebrosidase
- neuropathology
- Parkinson's disease
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
GBA mutations in Parkinson disease : earlier death but similar neuropathological features. / Adler, Charles Howard; Beach, T. G.; Shill, H. A.; Caviness, John Nathaniel; Driver-Dunckley, Erika M; Sabbagh, M. N.; Patel, A.; Sue, L. I.; Serrano, G.; Jacobson, S. A.; Davis, K.; Belden, C. M.; Dugger, B. N.; Paciga, S. A.; Winslow, A. R.; Hirst, W. D.; Hentz, J. G.
In: European Journal of Neurology, Vol. 24, No. 11, 01.11.2017, p. 1363-1368.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - GBA mutations in Parkinson disease
T2 - earlier death but similar neuropathological features
AU - Adler, Charles Howard
AU - Beach, T. G.
AU - Shill, H. A.
AU - Caviness, John Nathaniel
AU - Driver-Dunckley, Erika M
AU - Sabbagh, M. N.
AU - Patel, A.
AU - Sue, L. I.
AU - Serrano, G.
AU - Jacobson, S. A.
AU - Davis, K.
AU - Belden, C. M.
AU - Dugger, B. N.
AU - Paciga, S. A.
AU - Winslow, A. R.
AU - Hirst, W. D.
AU - Hentz, J. G.
PY - 2017/11/1
Y1 - 2017/11/1
N2 - Background and purpose: Mutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene. Methods: Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation. Clinical and neuropathological data were compared. Results: Twelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81 years of age) but there was no difference in disease duration or clinical examination findings. No neuropathological differences were found in total or regional semi-quantitative scores for Lewy-type synucleinopathy, senile plaques, neurofibrillary tangles, white matter rarefaction or cerebral amyloid angiopathy scores. Conclusions: In longitudinally assessed, autopsied PD cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. Due to the small GBA group size, small differences cannot be excluded.
AB - Background and purpose: Mutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene. Methods: Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation. Clinical and neuropathological data were compared. Results: Twelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81 years of age) but there was no difference in disease duration or clinical examination findings. No neuropathological differences were found in total or regional semi-quantitative scores for Lewy-type synucleinopathy, senile plaques, neurofibrillary tangles, white matter rarefaction or cerebral amyloid angiopathy scores. Conclusions: In longitudinally assessed, autopsied PD cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. Due to the small GBA group size, small differences cannot be excluded.
KW - genetics
KW - glucocerebrosidase
KW - neuropathology
KW - Parkinson's disease
UR - http://www.scopus.com/inward/record.url?scp=85030761938&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85030761938&partnerID=8YFLogxK
U2 - 10.1111/ene.13395
DO - 10.1111/ene.13395
M3 - Article
C2 - 28834018
AN - SCOPUS:85030761938
VL - 24
SP - 1363
EP - 1368
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 11
ER -