Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

From a series of 460 dementia patients referred to a regional brain bank, 14 (3%) patients had a pathologic diagnosis of primary degeneration of the brain involving multiple sites (frontoparietal cortex, striatum, medial thalamus, substantia nigra, and hypoglossal nucleus), with cell loss and astrocytosis. There were no neuronal inclusions and essentially no senile plaques. This entity, which we have termed "dementia lacking distinctive histology" (DLDH), presented with memory loss and personality changes, and led to death, usually within 2 to 7 years. Dysarthria and dysphagia were prominent in the later phases of the illness in most patients. The psychometric findings of some of the patients were consistent with a "frontal" lobe dementia. A few patients had prominent caudate atrophy on CT as well as neuropathologically. Eight of our patients had positive family histories for neurologic disease, mainly dementia. DLDH, in addition to Pick's disease, is a major member of the frontal-lobe dementia group. In patients under age 70 years, the frontal lobe dementias represent an important diagnostic consideration.
 ...
PMID:Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. 230 Feb 43

Corticobasal degeneration (CBD) was first reported by Rebeiz et al as corticodentatonigral degeneration with neuronal achromasia in 1967. After Gibb et al described 7 cases including 4 cases from the literature under the term of corticobasal degeneration, CBD has become widely recognized. The disease starts mainly in one's fifties and sixties with the duration of 6 to 7 years. The clinical features include asymmetric parkinsonism, cerebral cortical signs, and others. Typically, patients present with unilateral clumsiness with akinetic-rigid syndrome and limb-kinetic apraxia. Postural instability, gait disturbance and involuntary movements such as dystonia are not uncommon. The parkinsonism is DOPA-resistant. BEsides apraxia, alien limb syndrome, cortical sensory disturbances, frontal lobe-release signs, and dementia are representative cortical signs. Other clinical features include dysarthria, pyramidal tract signs and supranuclear gaze palsy. MRI, SPECT or PET reveals asymmetric atrophy, decrease in blood flow or reduction in metabolism of the frontal parietal region around the central sulcus. Electrophysiological and magnetic stimulation studies demonstrated increase in excitability of the cerebral cortex. Myoclonus in CBD is cortical in origin but without any preceding potential or giant somatosensory evoked potential. Neuropathologically CBD is characterized by involvement of the particular cortices and substantia nigra. Other structures such as the putamen, pallidum, thalamus, subthalamus, cerebellar dentate nucleus and brainstem are affected to various extents. Histological features include achromatic, ballooned neurons as well as tau and Gallyas positive neuronal and glial intracytoplasmic inclusions. Astrocytic plaque is considered to be a form of glial inclusions specific to CBD. Diagnosis of typical cases of CBD appears easy but atypical cases were reported with showed dementia or aphasia as a main feature, or were devoid of the asymmetry of signs and symptoms. CBD, progressive supranuclear palsy and Pick's disease share both clinical and neuropathological features to some extent while they are clearly distinct among typical cases. The etiology and pathomechanism of CBD remain to be elucidated.
 ...
PMID:[Corticobasal degeneration]. 957 68

We describe a patient with amyotrophic lateral sclerosis with dementia (ALS-D) displaying a long clinical course. A 68-year-old Japanese male with no family history of note was admitted complaining of severe dysarthria and dysphagia. At 63 years old, Pick's disease was diagnosed on the basis of abnormal behavior, such as "Denkfaulheit" and moria, and temporal lobe atrophy observed on magnetic resonance imaging (MRI). Five years after onset, dysarthria and dysphagia emerged, and gradually worsened. On admission, muscular weakness of the upper extremities, fasciculation, and exaggerated tendon stretch reflexes were noted. Needle electromyography performed on the left upper and lower extremities revealed neurogenic pattern changes. Based on these findings and clinical course, ALS-D was diagnosed. Due to severe bulbar palsy, verbal communication was impossible. However, neither specific symptoms of dementia nor abnormal behavior was demonstrated, although this latter had been observed 5 years ago, with only short-term memory impairment apparent. MRI disclosed severe knife-edge atrophy of bilateral temporal lobes, most prominently in the anterior regions. SPECT images revealed decreased uptake of tracer in bilateral inferior temporal lobes, predominantly on the left side. The patient died suddenly 4 months after admission, and post-mortem examination was not conducted. Total clinical course was about 8 years. Several cases of ALS-D have displayed similar clinical courses to the presented case. Some of these would also have initially been diagnosed as Pick's disease. We speculate that cases displaying psychiatric symptoms for several years and initially diagnosed as Pick's disease may finally be diagnosed as ALS-D upon the eventual emergence of motor symptoms(bulbar palsy).
 ...
PMID:[A case of amyotrophic lateral sclerosis with dementia presenting long clinical course]. 1268 97

Dementia with motor neuron disease (D-MND) is characterized clinically by frontal and neurological signs, and pathologically by localized atrophy of the fronto-temporal lobes and neuronal ubiquitin(Ub)-positive inclusions. In this study, we compared the clinico-pathological findings of two patients with D-MND. Case 1 (55-year-old male): At the age of 51, he developed personality change and disinhibition, lacking neurological signs. Brain MRI exhibited localized atrophy of the frontal lobes. At the age of 54, he showed dysphagia and died after a disease duration of 4 years. Neuropathologically, the cerebrum showed localized atrophy of the dorsal area of the frontal lobes. The atrophied cerebral cortex demonstrated moderate neuronal loss with spongy change and gliosis in the superficial layers. The brainstem and spinal cord revealed moderate neuronal loss in the substantia nigra, severe neuronal loss with Bunina bodies in the hypoglossal nucleus, and moderate neuronal loss in the cervical anterior horn. There were some Ub-positive neuronal inclusions in the atrophied cortex and many in the dentate gyrus. Case 2 (68-year-old female): At the age of 64, she developed personality change, and then gait disturbance and dysarthria. Brain MRI exhibited localized atrophy of the fronto-temporal lobes. At the age of 67, she showed dysphagia with Babinski signs and died after a disease duration of 4 years. Neuropathologically, the cerebrum showed localized atrophy of the basal area of the temporal lobes, especially on the right side. The atrophied cerebral cortex demonstrated moderated neuronal loss with spongy change and gliosis in the superficial layers. The pre-central cortex revealed severe loss of Betz cells. The brainstem and spinal cord showed mild neuronal loss without Bunina bodies in the hypoglossal nucleus and cervical anterior horn, accompanied by severe degeneration of the bilateral pyramidal tracts. There were many Ub-positive neuronal inclusions with a few neurites in the atrophied cortex and some in the dentate gyrus. Cases 1 and 2 were clinically diagnosed as Pick's disease (PiD) and D-MND, respectively, although pathological diagnoses were both D-MND. Case 1 showed neuropathological findings typical to D-MND, whereas case 2 showed neuropathological findings common to atypical Pick's disease (aPiD). D-MND and aPiD are should be clinico-pathologically differentiated, although they are included in the frontotemporal lobar degeneration with motor neuron disease-type inclusions.
 ...
PMID:[Clinico-pathological investigation of two patients with dementia with motor neuron disease]. 1737 Jun 52