Table 4.

Description of human ALS cases used for staining and expression analysisa

ALSsALS or fALSCase descriptionAge (yr)/sexApproximate symptom duration (mo)Autopsy interval (h)hR23A cytoplasm patternhR23A nucleus patternhR23B cytoplasm patternhR23B nucleus pattern
Case
    JH83fALSSOD1 N193K Onset: left leg50/M7414.5Strong depositsStrong stainingStrong depositsPunctate staining
    JH43fALSSOD1 A4V Onset: LE/left leg55/M21UnknownReticularPunctate stainingWeak depositsStrong staining
    JH74 (ALS Case 2 in Fig. 12)fALSSOD1 A4V
Bulbar onset
47/M1518.5Strong and weak depositsStrong stainingStrong and weak depositsPunctate staining
    JH82sALSOnset: LE/left leg66/M4313AbsentStrong stainingWeak depositsPunctate staining
    JH73sALSOnset: LE/left foot70/F368Strong depositsStrong stainingPunctate and strong depositsStrong staining
    JH86FTD + fALS (C9ORF72+)Onset: legs/cognition74/M∼8432Strong depositsStrong stainingStrong depositsWeak staining
    JH79sALSBulbar onset70/F2812Strong depositsStrong stainingStrong depositsStrong straining
    JH22fALS (C9ORF72+)Onset: UE/left arm66/M226Punctate throughoutPunctate stainingAbsentStrong staining
    JH49sALSOnset: UE/right hand68/F704Strong and weak depositsWeak stainingWeak depositsPunctate staining
    JH88FTD + fALS (C9ORF72+)Bulbar onset59/M2010ReticularWeak stainingStrong and weak depositsWeak staining
    JH07 (ALS Case 1 in Fig. 12)sALS (C9ORF72+)Bulbar onset67/M148Strong depositsWeak stainingStrong depositsStrong staining
    JH80sALSOnset: UE (right)56/F5021Strong depositsPunctate stainingStrong and weak depositsPunctate staining
  • aThe 12 ALS cases from which postmortem spinal cord tissue was taken following autopsy. UE, Upper extremities; LE, lower extremities; sALS, sporadic ALS; fALS, familial ALS (i.e., positive family history). ALS cases in Figure 12C were loaded in Western blot in this order: JH79, JH82, JH74, JH74, JH83.