Neuroimaging, cognitive, and pathological changes in dementia of the Alzheimer type (DAT).
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Biomedical subjects
Publications and source records attributed to P V Best.
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A report is given of four intracranial tumours which contained ribosome-lamella complexes (RLCs). Three of the tumours were of neuroectodermal origin (two gangliogliomas and an astrocytoma), in which these structures have not previously been documented, and one was a haemangioblastoma. This study supports the view that RLCs may be related to abnormal protein synthesis.
A report is given of a black family with a dominantly inherited, neuro-retinal degeneration associated with abnormally large mitochondria, in which the cristae are disoriented. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. A similar illness has been described in black families and individuals and we suggest that the disease may represent a specific syndrome, possibly confined to blacks, that lies within the spectrum of the so-called mitochondrionopathies.
A patient with meningeal carcinomatosis is reported in whom the primary--which was not discovered clinically despite extensive investigation and cytological examination--proved to be the rare signet-ring cell tumor of the gallbladder. Determination of the nature and site of origin of the neoplastic cells in cytospin preparations of cerebrospinal fluid was complicated by the failure of conventional methods to stain cytoplasmic mucin. It is hoped that the application of monoclonal antibodies may resolve similar diagnostic problems in the future.
Single photon emission computed tomography (SPECT) imaging of six Huntington's disease patients revealed a striking reduction in regional uptake of cerebral blood flow markers in vivo. Similar changes were found in one patient with "early stage" disease. The findings are compared with parallel magnetic resonance imaging (MRI) studies, and in one case, results of postmortem examination.
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A 33-year-old man presented with hepatosplenomegaly and ascites 26 months after receiving a successful renal transplant. Immunosuppression consisted of low-dose prednisolone and azathioprine. Biopsy showed characteristic features of nodular regenerative hyperplasia of liver (NRHL), a condition which may be related to azathioprine therapy but has rarely been reported in association with renal transplantation.
A report is given of a 24-year-old woman with a malignant cerebellopontine angle tumour, which appeared to have arisen from the 8th nerve sheath. It had a predominantly fasciculated, spindle-cell, Schwannoma-like structure, but also included rhabdomyoblastic elements and a diagnosis of malignant triton tumour is proposed. The patient did not have Von Recklinghausen's disease.
Two patients with systemic lupus erythematosus who developed progressive multifocal leukoencephalopathy (PML) are described. Although the time of PML onset could not be determined with certainty, it probably developed after steroid-induced immunosuppression. However, high-dose corticosteroids appeared to produce transient amelioration in the neurologic disorder. We suggest that PML is an important addition to the list of conditions to be considered in the differential diagnosis when a patient with systemic lupus erythematosus develops neurologic abnormalities.
A report is given of a woman who developed acute idiopathic polyradiculoneuritis and was found at necropsy 9 weeks later to have in addition multiple recent demyelinated lesions in the central nervous system (CNS), resembling those of multiple sclerosis (MS). The possibility that in such a case there might be an immunological reaction against one or more components of myelin common to the CNS and PNS has to be considered.
Twelve cases are reported in which multiple sclerosis was discovered unexpectedly at necropsy. Four of the patients had no known previous history of neurological illness, four did have a previous neurological or neuropsychiatric disturbance, but multiple sclerosis was never entertained in the differential diagnosis and four had a history of disorder in the nervous system, but a diagnosis of multiple sclerosis was either rejected or regarded as unlikely. In six of the eight patients with a previous history of neurological illness the onset was at or over the age of 50 years. Computed tomography and measurement of evoked responses should now reduce the number of undiagnosed cases, but some will inevitably remain, giving rise to an underestimate of disease prevalence.
A 47-year-old woman with malignant melanoma in the gallbladder and brain is described. Evidence is offered that the tumor arose in the gallbladder, the main factor being the presence of "junctional change" and isolated melanocytes in the adjacent mucosa.
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A girl developed subacute sclerosing panencephalitis (SSPE). Eight years earlier she had had measles infection contracted shortly after cytotoxic treatment and radiotherapy for a spinal neuroblastoma. The case illustrates that typical SSPE, like immunosuppressive measles encephalopathy, can arise after drug-induced immunosuppression, and supports the view that these diseases probably represent opposite ends of a spectrum induced by measles virus infection in an individual with some form of immunological deficiency.
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A systematic search for cases of adult-onset hereditary ataxia was conducted on location in Scotland. The investigation resulted in the discovery of eight pedigrees with 42 patients of whom 16 were alive in 1975. Nine patients were examined by the authors and recent hospital records were available on the remaining seven. The clinical features were quite variable. In declining order of frequency, findings were gait and limb ataxia, dysarthria, hyperreflexia, extrapyramidal motor disturbances, impaired vibratory sense, spasticity, defects of extraocular movements and nystagmus, reflex depression, Babinski signs, impaired joint position sense, muscle weakness, optic atrophy, and mental abnormalities. Foot deformity occurred only once. Inheritance was compatible with autosomal dominant transmission, but complicated by consanguinity in two families. The minimum prevalence was calculated as 0.31/100,000. Autopsy in two members in one family revealed olivopontocerebellar degeneration.
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