Hereditary cerebral haemorrhage with amyloidosis, Dutch type (HCHWA-D): clinicopathological studies.

Clinical and neuropathological findings are reported in 63 patients with hereditary cerebral haemorrhage with amyloid angiopathy. Patients had mostly recurrent strokes, and at least 80% of these were haemorrhages. Almost a third of the patients died within a year of their first and only recorded haemorrhage, half of them within two weeks.

Lewy bodies in the lateral hypothalamus: do they imply neuronal loss?

Lewy bodies have been found in the hypothalamic lateral tuberal nucleus (NTL) and the adjoining tuberomammillary nucleus (TM) in Parkinson's disease (PD). The NTL is severely atrophic in Huntington's disease; the TM seems unaffected. In this study, we examined the NTL and the TM of seven PD patients and one patient with presumed PD to assess whether the presence of Lewy bodies indicated neuronal loss.

Distribution of beta/A4 protein and amyloid precursor protein in hereditary cerebral hemorrhage with amyloidosis-Dutch type and Alzheimer's disease.

Brain amyloidosis with abundant beta/A4 protein deposition in plaques and cortical and meningeal vessels is found in Alzheimer's disease (AD) and hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D). In contrast to AD, no neuritic pathology or classical congophilic plaques are found in HCHWA-D. Unlike most AD cases, the congophilic angiopathy in HCHWA-D is very severe.

Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings.

Neuropathological findings in a 59-year-old male case of hereditary spastic dystonia with Leber's hereditary optic atrophy included: marked depletion of myelinated nerve fibres in the posterior funiculi, corticopontine tracts and striatum; practically complete neuronal depletion in the putamen and lateral part of the caudate, and mild cell loss in the substantia nigra. The putamina had changed into a spongy fibrillary scar, the pallidal fibres and laminae were practically all degenerated. Moreover, there was generalised mild fibre degeneration of the white matter.

Acute phase proteins but not activated microglial cells are present in parenchymal beta/A4 deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type.

With immunohistochemical staining methods on cryostat sections we investigated the brains of three patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type, one of the cerebral beta/A4 amyloid diseases. Immunostaining for beta/A4 protein revealed numerous non-fibrillar beta/A4 depositions (amorphous or diffuse plaques) in the brain parenchyma in addition to extensive vascular amyloid deposition. All amorphous plaques contain complement proteins and alpha 1-antichymotrypsin but activated microglial cells expressing major histocompatibility (MHC) class II antigens HLA-DR and leucocyte adhesion molecules belonging to the lymphocyte-function-associated antigen (LFA)-1 family are virtually absent in cortical gray matter.