Numerous conglomerate inclusions in slowly progressive familial amyotrophic lateral sclerosis with posterior column involvement.
A 59-year-old woman with slow progression of the loss of motor function and predominant lower motor manifestation during a 14-year period showed familial amyotrophic lateral sclerosis (fALS) with posterior column involvement, neuropathologically. Conglomerate inclusions (CIs) were observed in the remaining neurons in various areas, including the spinal anterior horn, posterior horn, Clark's column, accessory cuneate nucleus, tegmental reticular formation, motor nucleus of the trigeminal nerve, nucleus of the facial nerve, hypoglossal nucleus, medial nucleus of the thalamus, dentate nucleus, and motor cortex (Betz cells). Immunohistochemically, it was newly identified that the CIs showed marked immunoreactions with antibodies to phosphorylated and non-phosphorylated neurofilaments and to 64, 120, and 200 kD neurofilaments. The CIs were partially immunoreactive with the anti-ubiquitin antibody, although they reacted only weakly (or not at all) with anti-Cu/Zn superoxide dismutase (SOD1) antibody. Ultrastructurally, the CIs were comprised of neurofilaments. These data suggest that this case might have been different from an example of fALS with Ile 113 Thr mutation in the SOD1 gene.
Katayama
S
S
Third Department of Internal Medicine, Hiroshima University School of Medicine, 1-2-3 Kasumi, Minami-ku, Hiroshima, Japan. k-sada@msg.biglobe.ne.jp
Watanabe
C
C
Noda
K
K
Ohishi
H
H
Yamamura
Y
Y
Nishisaka
T
T
Inai
K
K
Asayama
K
K
Murayama
S
S
Nakamura
S
S
D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D000870:Anterior Horn Cells / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000201:enzymology / Q000648:ultrastructure*; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000378:metabolism; D010375:Pedigree; D013116:Spinal Cord / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D013482:Superoxide Dismutase / Q000172:deficiency / Q000235:genetics; D000072105:Superoxide Dismutase-1; D014452:Ubiquitins / Q000378:metabolism
D016900:Neurofilament Proteins; C000606290:SOD1 protein, human; D014452:Ubiquitins; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1