Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2.
The involvement of the thalamus during the course of the currently known polyglutamine diseases is still a matter of debate. While it is well-known that this diencephalic nuclear complex undergoes neurodegeneration in some polyglutamine diseases such as Huntington's disease (HD), it has remained unclear whether and to what extent the thalamus is also involved in spinocerebellar ataxia type 2 (SCA2) patients. Encouraged by our recent post-mortem findings in one German SCA2 patient and the results of a recent nuclear magnetic resonance (NMR) study, we extended our pathoanatomical analysis to serial thick sections stained for lipofuscin granules and Nissl substance through the thalami of four additional German and Cuban SCA2 patients. According to this analysis the thalamus is consistently affected by the destructive process of SCA2. In particular, during our study we observed a consistent involvement of the lateral geniculate body, the lateral posterior, ventral anterior, ventral lateral, ventral posterior lateral, and ventral posterior medial thalamic nuclei as well as the extraterritorial reticular nucleus. In four of the SCA2 cases studied additional damage was seen in the inferior and lateral nuclei of the pulvinar, whereas in the minority of the patients a subset of the limbic nuclei of the thalamus (i.e. anterodorsal, anteroprincipal, laterodorsal, fasciculosus, mediodorsal, central lateral, central medial, cucullar, and paracentral nuclei, medial nucleus of the pulvinar) underwent neurodegeneration. These interindividual differences in the distribution pattern of thalamic neurodegeneration indicate that the thalamic nuclei differ in their proclivities to degenerate in SCA2 and may suggest that they become involved at different phases in the evolution of the underlying degenerative process.
Rüb
U
U
Institute for Clinical Neuroanatomy, J. W. Goethe University, Frankfurt/Main, Germany. U.Rueb@em.uni-frankfurt.de
Del Turco
D
D
Bürk
K
K
Diaz
G Orozco
GO
Auburger
G
G
Mittelbronn
M
M
Gierga
K
K
Ghebremedhin
E
E
Schultz
C
C
Schöls
L
L
Bohl
J
J
Braak
H
H
Deller
T
T
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009562:Nissl Bodies / Q000378:metabolism; D020754:Spinocerebellar Ataxias / Q000378:metabolism / Q000473:pathology*; D013788:Thalamus / Q000378:metabolism / Q000473:pathology*
D008062:Lipofuscin