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001-es BibID:	BIBFORM029485
Első szerző:	Troakes, Claire
Cím:	An MND/ALS phenotype associated with C9orf72 repeat expansion : abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline / Claire Troakes, Satomi Maekawa, Lokesh Wijesekera, Boris Rogelj, László Siklós, Christopher Bell, Bradley Smith, Stephen Newhouse, Caroline Vance, Lauren Johnson, Tibor Hortobágyi, Aleksey Shatunov, Ammar Al-Chalabi, Nigel Leigh, Christopher E. Shaw, Andrew King, Safa Al-Sarraj
Dátum:	2012
ISSN:	0919-6544
Megjegyzések:	The transactive response DNA binding protein (TDP-43) proteinopathies describe a clinico-pathological spectrum of multi-system neurodegeneration that spans motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) and frontotemporal lobar degeneration (FTLD). We have identified four male patients who presented with the clinical features of a pure MND/ALS phenotype (without dementia) but who had distinctive cortical and cerebellar pathology that was different from other TDP-43 proteinopathies. All patients initially presented with weakness of limbs and respiratory muscles and had a family history of MND/ALS. None had clinically identified cognitive decline or dementia during life and they died between 11 and 32 months after symptom onset. Neuropathological investigation revealed lower motor neuron involvement with TDP-43-positive inclusions typical of MND/ALS. In contrast, the cerebral pathology was atypical, with abundant star-shaped p62-immunoreactive neuronal cytoplasmic inclusions in the cerebral cortex, basal ganglia and hippocampus, while TDP-43-positive inclusions were sparse. This pattern was also seen in the cerebellum where p62-positive, TDP-43-negative inclusions were frequent in granular cells. Western blots of cortical lysates, in contrast to those of sporadic MND/ALS and FTLD-TDP, showed high p62 levels and low TDP-43 levels with no high molecular weight smearing. MND/ALS-associated SOD1, FUS and TARDBP gene mutations were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD. We conclude that these chromosome 9-linked MND/ALS cases represent a pathological sub-group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban külföldön készlt közlemény
Megjelenés:	Neuropathology. - 32 : 5 (2012), p. 505-514. -
További szerzők:	Maekawa, Satomi Wijesekera, Lokesh Rogelj, Boris Siklós László Bell, Christopher Smith, Bradley Newhouse, Stephen Vance, Caroline Johnson, Lauren Shatunov, Aleksey Al-Chalabi, Ammar Leigh, P. Nigel Shaw, Christopher E. King, Andrew Al-Sarraj, Safa Hortobágyi Tibor (1965-) (patológus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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