Table 3.
Pathological, genetic, and clinical data of 18 cases with discrepant retrospective and original pathological diagnoses of Huntington’s disease (HD).
| Number/age/sex | Brain weight (g) | Pathological assessment | (CAG)n | Clinical diagnosis HD/chorea | Family history (41) | |||
|---|---|---|---|---|---|---|---|---|
| Original | Revised | |||||||
| HD | NII/NI | HD/Grade | Additional/other diagnoses | |||||
| 1/39/F | ND | − | +/+ | +/0† | ND | ND | at‐risk | + |
| 2/47/M | ND | − | +/+ | +/I | ND | ND | +?/− | S |
| 3/71/M | 1270 | − | +/+ | +/I | Lac infarcts | ND | +?/+? | − |
| 4/64/F | 1070 | − | +/+ | +/II | Str ascl | ND | + | S |
| 5/66/F | 1340 | − | +/+ | +/II | Men‐enc | 17–43 | + | S |
| 6/70/F | 1210 | − | +/+ | +/II | ND | ND | + | U |
| 7/72/F | 1285 | − | +/+ | +/II | Str ascl | ND | + | S |
| 8/74/F | ND | − | +/+ | +/II | Str ascl | ND | + | S |
| 9/50/M | 1260 | − | +/+ | +/III | ND | 27–45 | + | −‡ |
| 10/51/F | 1100 | − | +/+ | +/III | ND | 15–43 | + | S |
| 11/73/F | 1030 | − | +/+ | +/III | AD§ | 18–42 | + | S |
| 12/83/F | ND | − | +/+ | +/III | AD¶, Str ascl | ND | + | U |
| 13/80/F | ND | − | +/+ | +/ungraded | ND | ND | +? | S |
| 14/36/M | ND | +? | +/+ | +/II | ND | ND | + | + |
| 15/70/M | ND | +? | +/+ | +/II | Str ascl | ND | +?/+ | S |
| 16/57/M | ND | +? | +/+ | +/III | Caudate infarct†† | ND | +?/+ | S |
| 17/61/M | 980 | +? | +/+ | +/IV† | Old contusion | ND | +?/+ | S |
| 18/45/F | ND | + | −/− | −/HD‐like‡‡ | ChAc | ND | +?/+ | S |
Reviewed by J‐P Vonsattel (NY, USA).
Years after this patient’s death, his father was shown to have an intermediate CAG repeat length.
CERAD infrequent, Braak I/II (47).
CERAD infrequent, Braak III/IV (47).
Considered related to an arteriovenous malformation.
Creutzfeldt‐Jakob disease excluded by G Janssen (Utrecht, The Netherlands).
Abbreviations and symbols: NII/NI = ubiquitinated N‐terminal huntingtin‐positive neuronal intranuclear inclusions/neuropil inclusions; Grade = grade according to Vonsattel et al (33, 49); Chorea = choreiform movements (indicated if relevant); F = female; − = negative; + = positive; M = male; +? = questionable; Lac = lacunar; Str ascl = striatal arteriosclerosis; Men‐enc = old meningo‐encephalitis; S = suspect; U = unknown; AD = Alzheimer’s disease; ChAc = chorea‐acanthocytosis; CERAD = Consortium to Establish a Registry for AD; ND = not determined.