Table 4.
Pathological, genetic and clinical data of seven cases without Huntington’s disease (HD) neuronal intranuclear and neuropil inclusions.
| Number/age/sex | Brain weight (g) | Pathological assessment | (CAG)n | Clinical diagnosis HD/chorea | Family history (41) | ||
|---|---|---|---|---|---|---|---|
| Original | Revised | ||||||
| HD | HD/grade | Additional/other diagnoses | |||||
| 1/55/F | — | − | −/0 | Pontine hem | 20–26 | at risk | S |
| 2/62/M | 1250 | − | −/0 | Infarct right caudate | — | at risk | S |
| 3/64/M | 1360 | − | −/0 | Cong malformation† | 15–18 | at risk | + |
| 4/90/F | — | − | −/0 | AD‡ | 19–24 | at risk | + |
| 5/58/F | 1000 | − | −/0 | AD§, brain calcinosis | — | +?¶/− | S |
| 6/74/F | — | − | −/0 | PSP symbol | 16–17 | +?††/+ | U |
| 7/45/F | — | + | −/HD‐like‡‡ | ChAc | — | +?/+ | S |
Partial agenesis of the corpus callosum [reviewed by H Vinters (LA, USA)].
CERAD moderate, Braak III/IV (47).
CERAD moderate, Braak V/VI (47).
Differential diagnosis of Parkinson’s disease symbol (25).
Differential diagnosis of PSP.
Creutzfeldt‐Jakob disease excluded by G Janssen (Utrecht, The Netherlands).
Abbreviations and symbols: Chorea = choreiform movements (indicated if relevant); F = female; M = male; − = negative; Hem = hemorrhage; S = suspect; Cong = congenital; + = positive; AD = Alzheimer’s disease; +? = questionable; PSP = progressive supranuclear palsy; U = unknown; ChAc = chorea‐acanthocytosis; CERAD = Consortium to Establish a Registry for AD.