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 famil ial amyotrophic lateral sclerosis (fALS) with posterior column involvement, neuropathologically. Conglomerate inclusions (CIs) were observed in the re maining neurons in various areas, including the spinal anterior horn, poste rior horn, Clark's column, accessory cuneate nucleus, tegmental reticular f ormation, motor nucleus of the trigeminal nerve, nucleus of the facial nerv e, hypoglossal nucleus, medial nucleus of the thalamus, dentate nucleus, an d motor cortex (Betz cells). Immunohistochemically, it was newly identified that the CIs showed marked immunoreactions with antibodies to phosphorylat ed and non-phosphorylated neurofilaments and to 64, 120, and 200 kD neurofi laments. The CIs were partially immunoreactive with the anti-ubiquitin anti body, although they reacted only weakly (or not at all) with anti-Cu/Zn sup eroxide dismutase (SOD1) antibody. Ultrastructurally, the CIs were comprise d of neurofilaments. These data suggest that this case might have been diff erent from an example of fALS with lie 113 Thr mutation in the SOD1 gene. ( C) 1999 Published by Elsevier Science B.V. All rights reserved.