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2016 ; 132
(4
): 531-43
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Neuropathological criteria of anti-IgLON5-related tauopathy
#MMPMID27358064
Gelpi E
; Höftberger R
; Graus F
; Ling H
; Holton JL
; Dawson T
; Popovic M
; Pretnar-Oblak J
; Högl B
; Schmutzhard E
; Poewe W
; Ricken G
; Santamaria J
; Dalmau J
; Budka H
; Revesz T
; Kovacs GG
Acta Neuropathol
2016[Oct]; 132
(4
): 531-43
PMID27358064
show ga
We recently reported a novel neurological syndrome characterized by a unique NREM
and REM parasomnia with sleep apnea and stridor, accompanied by bulbar
dysfunction and specific association with antibodies against the neuronal
cell-adhesion protein IgLON5. All patients had the HLA-DRB1*1001 and
HLA-DQB1*0501 alleles. Neuropathological findings in two patients revealed a
novel tauopathy restricted to neurons and predominantly involving the
hypothalamus and tegmentum of the brainstem. The aim of the current study is to
describe the neuropathological features of the anti-IgLON5 syndrome and to
provide diagnostic levels of certainty based on the presence of associated
clinical and immunological data. The brains of six patients were examined and the
features required for the neuropathological diagnosis were established by
consensus. Additional clinical and immunological criteria were used to define
"definite", "probable" and "possible" diagnostic categories. The brains of all
patients showed remarkably similar features consistent with a neurodegenerative
disease with neuronal loss and gliosis and absence of inflammatory infiltrates.
The most relevant finding was the neuronal accumulation of hyperphosphorylated
tau composed of both three-repeat (3R) and four-repeat (4R) tau isoforms,
preferentially involving the hypothalamus, and more severely the tegmental nuclei
of the brainstem with a cranio-caudal gradient of severity until the upper
cervical cord. A "definite" diagnosis of anti-IgLON5-related tauopathy is
established when these neuropathological features are present along with the
detection of serum or CSF IgLON5 antibodies. When the antibody status is unknown,
a "probable" diagnosis requires neuropathological findings along with a
compatible clinical history or confirmation of possession of HLA-DRB1*1001 and
HLA-DQB1*0501 alleles. A "possible" diagnosis should be considered in cases with
compatible neuropathology but without information about a relevant clinical
presentation and immunological status. These criteria should help to identify
undiagnosed cases among archival tissue, and will assist future
clinicopathological studies of this novel disorder.
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