1/5. Genetically confirmed clinical Huntington's disease with no observable cell loss.Huntington's disease (HD) results from neurodegeneration of the neostriatum. The mutation on chromosome 4 is an expansion in a triplet repeat (CAG)(n) located within the IT15 gene. Only six patients have been reported with clinical features of HD in association with limited neuropathology. Of these, only one has had the diagnosis confirmed by genetic (dna) testing. We describe a patient with the clinical phenotype and genetically confirmed HD but unexpected limited neuropathology. The patient was seen because of aggressive behaviour and memory problems of two years duration. The differential diagnosis included HD although there was no family history. dna testing was positive for the HD mutation. Clinical follow up three months later confirmed classic features of HD. Progression of the disease was rapid with death three years later. Neuropathology revealed a largely intact neostriatum with bilateral ischaemic damage and cell loss in the external globus pallidus. Such pathology alone could explain the clinical features of HD. This is only the second report of genetically confirmed clinically manifest HD with little evidence of HD neuropathology. There are several unusual features which could not have been predicted by the clinical picture, in particular the progressive course of bilateral ischaemic changes restricted to the external globus pallidus. The potential to miss other HD cases at post-mortem examination, and the implications of this for family members, are discussed.- - - - - - - - - - ranking = 1keywords = neostriatum (Clic here for more details about this article) |
2/5. Loss of matrix calcium-binding protein-containing neurons in Huntington's disease.In post-mortem brain specimens from patients dying with a clinical diagnosis of Huntington's disease (HD) immunohistochemistry showed a substantial loss from the neostriatum of neurons containing the calcium-binding protein calbindin 28K. These calbindin neurons, and the straital compartment in which they are sited, are particularly damaged in HD, suggesting that a failure of calcium buffering or homeostasis may contribute to cell death in HD.- - - - - - - - - - ranking = 0.5keywords = neostriatum (Clic here for more details about this article) |
3/5. A morphometric reevaluation of Huntington's chorea with special reference to the large neurons in the neostriatum.In order to reevaluate the quantitative changes in the neostriatum of Huntington's chorea (HC), sections of the caudate head and putamen from 4 HC and 5 control cases were treated with Kluver-Barrera stain and the nuclear area of the neurons was measured by a digitizer. The number of neurons of different sizes was evaluated statistically. This study revealed a significant decrease in the number of large neurons (nuclear area; greater than 121 microns 2) as well as a severe decrease in the number of small neurons (nuclear area; less than 80 microns 2) in the neostriatum of HC. There was a parallel degree of neuronal loss in the upper and lower portions of both caudate head and putamen. The degree of neuronal loss was slightly more severe in the putamen than in the caudate head. The depletion of the large neurons was not correlated with the loss of small neurons. The number of medium-sized neurons (nuclear area; 81-120 microns 2) showed no statistically significant change.- - - - - - - - - - ranking = 3keywords = neostriatum (Clic here for more details about this article) |
4/5. Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation.We present the clinical, molecular genetic and neuropathological findings of an 81-year-old man with concurrent Huntington's disease (HD) and familial amyotrophic lateral sclerosis (FALS). His mother had been diagnosed clinically as having ALS. There was no known family history of HD, but a maternal uncle had died in a chronic care psychiatric hospital. The diagnosis of HD in the patient was suspected at age 66, after 8 years of personality change, hallucinations, agitation, cognitive decline and choreoathetosis. No symptoms of motor neuron disease were noticed at that time, but progressive weakness developed later. Postmortem examination revealed cerebral atrophy, marked atrophy of basal ganglia (grade 3), and atrophy of brain stem and spinal cord. The neostriatum displayed massive neuronal loss and gliosis. The neocortex showed changes characteristic of Alzheimer's disease. Pathological lesions also included loss of neurons and gliosis in the anterior horns, Clarke's columns and the hypoglossal nuclei; degeneration of the lateral corticospinal tracts, dorsal spinocerebellar tracts and fasciculus gracilis; and rare Bunina bodies and ubiquitin-positive filamentous skeins in motor-neuron perikarya. Molecular analysis demonstrated chromosome 4p16.3 expansion of trinucleotide repeats characteristic of HD. Analysis of Cu,Zn superoxide dismutase gene and heavy neurofilament subunit gene failed to demonstrate mutations. The concurrence of HD and FALS in our patient and three previously reported cases did not appear to be associated with cosegregation in other family members.- - - - - - - - - - ranking = 0.5keywords = neostriatum (Clic here for more details about this article) |
5/5. Atypical rigid form of Huntington's disease: a case with peripheral amyotrophy and congenital defects of a lower limb.We describe a patient showing an atypical phenotype of Huntington's disease (HD), including prominent generalized dystonia, peripheral amyotrophy of the legs with an inverted champagne bottle configuration and pes equinus. The patient also had congenital defects of the lower left leg. chorea and psychiatric symptoms were not prominent. polymerase chain reaction assessment revealed 51 CAG repeats in gene IT 15. magnetic resonance imaging of the brain demonstrated mild atrophy of the pons and cerebellum, and hyperintensity of the transverse pontine fibers and neostriatum on spin-echo images. Peripheral amyotrophy in this case might have resulted from axonal degeneration related to neuronal damage in the central nervous system, although at the present time we cannot confirm it as a new HD phenotype.- - - - - - - - - - ranking = 0.5keywords = neostriatum (Clic here for more details about this article) |