Neuropathological changes in essential tremor: 33 cases compared with 21 controls.
Despite its being one of the most commonly observed neurological disorders, neuropathological studies of essential tremor (ET) are rare. There have been surprisingly few autopsy studies and even fewer case-control comparisons. The primary objective was to describe and quantify the pathological changes in 33 ET and 21 control brains. A secondary objective was to correlate clinical and pathological features. We examined autopsy tissue from the Essential Tremor Centralized Brain Repository. Eight (24.2%) of the 33 ET brains had Lewy bodies in the brainstem, mainly in the locus ceruleus. However, the majority of ET brains (25/33, 75.8%) had no Lewy bodies, but had pathological changes in the cerebellum. The mean number of Purkinje cells per 100x field was reduced in ET cases without Lewy bodies (6.6 +/- 2.4 versus 9.6 +/- 3.4, P < 0.01), and there were approximately 7x more Purkinje cell torpedoes per section (12.6 +/- 7.9 versus 1.7 +/- 1.4, P < 0.001) compared to controls. ET cases without Lewy bodies also had degeneration of the dentate nucleus (two cases). Other findings in ET cases were Purkinje cell heterotopias and dendrite swellings. Lewy body ET cases were older than ET cases without Lewy bodies. Several trends were observed in ET cases without Lewy bodies, including a younger age of onset of tremor and higher proportions with gait difficulty and family history of ET. The pathological changes of ET seem to be heterogeneous and degenerative. The majority have cerebellar changes without Lewy bodies; a smaller proportion has brainstem Lewy bodies. The clinical differences between cases with versus without Lewy bodies require additional study.
Louis
Elan D
ED
GH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, USA. EDL2@columbia.edu
Faust
Phyllis L
PL
Vonsattel
Jean-Paul G
JP
Honig
Lawrence S
LS
Rajput
Alex
A
Robinson
Christopher A
CA
Rajput
Ali
A
Pahwa
Rajesh
R
Lyons
Kelly E
KE
Ross
G Webster
GW
Borden
Sarah
S
Moskowitz
Carol B
CB
Lawton
Arlene
A
Hernandez
Nora
N
D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology*; D001933:Brain Stem / Q000473:pathology; D016022:Case-Control Studies; D002452:Cell Count; D002531:Cerebellum / Q000473:pathology; D020329:Essential Tremor / Q000473:pathology*; D005260:Female; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology; D008125:Locus Coeruleus / Q000473:pathology; D008297:Male; D011689:Purkinje Cells / Q000473:pathology; D012720:Severity of Illness Index