1/7. Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion.Three patients with sporadic amyotrophic lateral sclerosis (ALS) presented with a history of backward falls. Impaired postural reflexes and retropulsion accompanied clinical features of ALS. hypokinesia, decreased arm swing, and a positive glabellar tap were noted in two of these three patients. Cognitive impairment, tremor, axial rigidity, sphincter dysfunction, nuchal dystonia, dysautonomia, and oculomotor dysfunction were absent. Brain MRI disclosed bilateral T2 weighted hyperintensities in the internal capsule and globus pallidus in one patient. Necropsy studies performed late in the course of ALS have shown degeneration in extrapyramidal sites-for example, the globus pallidus, thalamus, and substantia nigra. Clinically, backward falls and retropulsion may occur early in ALS. This may reflect extrapyramidal involvement.- - - - - - - - - - ranking = 1keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
2/7. Sporadic amyotrophic lateral sclerosis with extensive neurological involvement.We report an autopsy case of respirator-assisted long-survival sporadic amyotrophic lateral sclerosis (ALS) with extensive involvement extending beyond the motor system. The involved areas included the globus pallidus, subthalamic nucleus, red nucleus, substantia nigra, Clarke's column, intermediolateral nucleus, Onuf's (Onufrowicz) nucleus, middle root zone of the posterior column, and the spinocerebellar tract. There was no impairment of ocular movements. Such sporadic ALS cases with extensive involvement extending beyond the motor system may constitute a distinct subgroup of this disease that differs from long-survival ALS (with or without respirator support) in which only the motor system is affected.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
3/7. A sporadic juvenile case of the amyotrophic lateral sclerosis with neuronal intracytoplasmic inclusions.In an autopsy case of the sporadic juvenile ALS (a 17-year-old girl) intracytoplasmic inclusions are found in the upper and lower motor neurons and in nerve cells of the dentate nucleus, pontine nucleus, brain stem reticular formation, substantia nigra, thalamus, globus pallidus and others. Histochemically they contain RNA-Protein compounds. Electron microscopically, they consist of randomly interwoven tubules with granular endoplasmic reticulums and free ribosomes in the margin. Each tubule measures 90--150 A in diameter and shows no distinct periodic constiction. Amorphous substances as well as ribosome granules are scattered and associated with those tubules. The inclusion-bearing cells are usually swollen and chromatolytic and have a large hydropic nucleus, suggesting a close relation between the development of the inclusion and chromatolysis. Clinically, a rapid progress of the symptoms (total duration: about 12 months) and conspicuous disturbances of the autonomic nerve, such as sinus tachycardia and bladder sphincter dysfunction, should be noticed.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
4/7. Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis.The clinical and pathologic findings in a 34-year-old woman with basal ganglia degeneration and amyotrophic lateral sclerosis are reported. The duration of symptoms was 2 years. A maternal uncle had a parkinsonian syndrome with onset at 45 years of age. Neuropathologic examination revealed extensive neuronal loss and gliosis in the corpus Luysii. Nerve cell loss and gliosis also involved both parts of the globus pallidus, and the substantia nigra. The corticospinal tracts were demyelinated in the spinal cord, and neuronal loss was observed in the anterior horns. Only one similar case of pallido-luyso-nigral atrophy associated with amyotrophic lateral sclerosis has, to our knowledge, been reported previously. Such an association may represent more than a coincidental occurrence.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
5/7. Pallido-luyso-nigral atrophy and amyotrophic lateral sclerosis.Clinical and neuropathological studies of a case of pallido-luyso-nigral atrophy and amyotrophic lateral sclerosis (ALS) in a young woman with a strong likelihood of a similar familial past medical history have been presented. Microscopic examination revealed neuronal loss and gliosis of globus pallidus, corpus luysii and substantia nigra. pallor of the pyramidal tracts and neuronal loss in hypoglossal nuclei and anterior horns with gliosis were present. The rarity of the association of a pallido-luyso-nigral atrophy and an ALS, the occurrence of an ALS at such a young age and the fact that her grandmother died of parkinson disease at age 30 suggest that this association may represent more than a coincidental occurrence.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
6/7. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles.Mutations of SOD-1 have recently been associated with autosomal dominant familial amyotrophic lateral sclerosis (ALS). A patient is described with a 20 year duration of motor neuron disease, with clinical features of ALS, who was heterozygous for a point mutation ATT to ACT leading to substitution of isoleucine for threonine at codon 113 in exon 4 of SOD-1. This mutation has previously been described in two families with ALS and three apparently sporadic cases of ALS. The patient described here had a family history suggestive of autosomal dominant inheritance of this genetic mutation; other members of the family having a more typical disease duration. Unusual pathological features included neurofibrillary tangles in neurons of the globus pallidus, substantia nigra, locus coeruleus, and inferior olivary nuclei, and absence of ubiquitin immunoreactive inclusions in motor neurons. This may reflect the slow progression of the neurodegeneration associated with the SOD-1 mutation in this patient. The prolonged survival, of over 20 years, with other family members having a more typical survival of two to three years, has important implications for genetic counselling in families with ALS in addition to the fundamental biological questions concerning the influence of these mutations on disease expression.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |
7/7. amyotrophic lateral sclerosis with numerous axonal spheroids in the corticospinal tract and massive degeneration of the cortex.A 53-year-old woman developed bulbar palsy, spastic quadriplegia, amyotrophy, and supranuclear ophthalmoplegia, and thereafter her condition was managed with mechanical ventilation for 1 year. Her total clinical course was 6 years. The autopsy examination revealed neuronal loss with reactive astrocytosis in the precentral cortex, thalamus, mammillary body, amygdala, putamen, globus pallidus, subthalamic nucleus, and the substantia nigra, in addition to degeneration of lower motor neurons, some of which contained Bunina bodies. Along the corticospinal tract, there were severe axonal loss and numerous axonal spheroids, which were positive for phosphorylated neurofilament, ubiquitin, and synaptophysin, and lipid-laden macrophages in the centrum semiovale to the crus cerebri. Ballooned neurons, which were positive for phosphorylated neurofilament, were occasionally seen in the frontal cortex. Although in the common form of amyotrophic lateral sclerosis (ALS) both upper and lower motor neurons are mainly involved, the corticospinal tract degeneration cannot be traced rostral to the pons. The noteworthy features in our patient were the precentral cortical degeneration and axonal spheroids in the corticospinal tract rostral to the pons. It remains unclear why axonal spheroids in the corticospinal tract and precentral cortical degeneration are not observed in most ALS cases. Whether their development depends on the clinical duration, mechanical ventilator management, or some other factors remains an open question.- - - - - - - - - - ranking = 0.5keywords = globus pallidus, pallidus, globus (Clic here for more details about this article) |