Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an autopsy case of a 73 year-old female with idiopathic parkinsonism, characterized pathologically by the wide spread appearance of Lewy bodies (LBs) not only in the pigmented neurons in the midbrain and brainstem but also in the cerebral cortex. Initial symptoms at the age of 62 were finger tremor and gait disturbance, which were followed mainly by mental deterioration, such as regression, dependency, auditory hallucination, depression, emotional incontinence, and a personality change. In the terminal stage, nuchal stiffness in extension, one of the hallmarks of progressive supranuclear palsy, and slow and generalized tremor in all 4 extremities were noted. She died of aspiration pneumonia. The brain was somewhat small and weighed 1100 g after the fixation by formalin. Macroscopical findings included mild cerebral atrophy with mild pial thickening both in the frontal and temporal lobes and slight expansion of the ventricular system. Histopathologically, severe loss of neuronal cells in both the pallidum and Luy's body and moderate loss of large cells in the putamen were noted in addition to the typical findings of Parkinson's disease in the substantia nigra and locus caeruleus including neuronal cell loss, depigmentation, and gliosis. These findings in the basal ganglia were more conspicuous than the two controls of classical Parkinson's disease. The distribution, stainability in the routine methods of staining, and shape of Lewy bodies in the cerebral cortex conformed to those of previous reports. The similar case reports in the literatures do not seem to have paid much attention to the findings of the basal ganglia observed in our case.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of idiopathic parkinsonism with numerous Lewy bodies in the cerebral cortex--diffuse Lewy body disease]. 165 48

A series of 195 cases of Wilson's disease were assessed retrospectively on a range of variables, including psychiatric, neurologic, and hepatic symptoms, and biochemical data as recorded at first admission to a specialist clinic. Ninety-nine patients (51%) were rated as displaying some evidence of psychopathologic features, and 39 (20%) had seen a psychiatrist before the diagnosis of Wilson's disease. The most common psychiatric features were abnormal behavior and personality change, although depression and cognitive impairment were also rated frequently. Schizophrenialike psychoses were rare, apparently occurring at no more than chance frequency. Psychiatric symptoms were related to neurologic rather than hepatic symptoms, and certain symptoms (incongruous behavior, irritability, and personality change) had a particularly significant relationship with bulbar and dystonic disorders but not with tremor. Psychiatric manifestations are important in Wilson's disease, and many of the psychopathologic features seem to have an organic basis.
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PMID:Wilson's disease. Psychiatric symptoms in 195 cases. 258 27

A 38-year-old man presented with personality change, postural tremor of the right arm and leg, and right hemidysesthesia. MR imaging (MRI) revealed left hemisphere dominant brain atrophy and leuko-araiosis in the deep white matter. Serological test of serum and cerebrospinal fluid demonstrated high titers of antibodies to Treponema pallidum. He was diagnosed as Lissauer's general paresis based on the clinical symptoms and signs, and MRI findings. This disorder is characterized by focal cerebral atrophy, corresponding to focal neurologic signs. Neuropathological features in Lissauer's general paresis are spongiform atrophy of the cerebral cortex and demyelination of the white matter. Leuko-araiosis on MRI in our case may represent demyelination of the white matter. Although MRI findings in general paresis are usually nonspecific, this is, as far as we know the first case report of general paresis with MRI showing focal cerebral atrophy and leuko-araiosis.
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PMID:[A case of Lissauer's general paresis with left hemisphere dominant brain atrophy and leuko-araiosis in the deep white matter on MRI]. 866 36

Idiopathic Parkinson's disease (IPD) is a common and universal condition. Although its cause is still unknown, we now have some insights into pathogenetic mechanisms and genetic factors that may be important in causing the selective neuronal loss and presence of Lewy bodies that characterize its pathology. Clinically, as well as the classic features of akinesia, rigidity and often rest tremor, patients may present a wide range of other symptoms including pain, other sensory symptoms, impaired olfaction, personality change, mild executive cognitive deficits, dementia and depression, an extraordinary richness of symptoms and signs rendered even more extraordinary by the long-term effects of drug treatment. While there may be little difficulty recognizing typical cases of IPD, there has been, at least until recently, a considerable misdiagnosis rate in both atremulous (confusion with ageing, vascular disease, multiple system atrophy (MSA) or progressive supranuclear palsy (PSP)) and tremulous (confusion with essential tremor (ET), dystonic tremor, and MSA) forms. However, increasing awareness of the clinical features of all these conditions, together with adherence to exacting diagnostic criteria, is leading to improved diagnosis, which is crucial for patients (who want to know what the future holds for them), for their treatment (giving them the right drug and not the wrong one) and for research (since all the different diseases above have different aetiologies and pathology).
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PMID:Parkinson's disease: clinical features. 942 65

1. We examined 156 patients 33 years after CO poisoning occurred at the Miike Mikawa Mine, Fukuoka, Japan. The subjects were classified according to age as follows: between 55 and 59 years (n = 14), 60 and 69 years (n = 62), 70 and 79 years (n = 60), and 80 and 87 years (n = 18). The mean age was 69.2 years old. Concerning the duration of coma that occurred soon after the accident, 64 remained comatose from 0 to 6 hours, 46 from 6 to 12 hours and 46 from 12 to 48 hours. 2. Subjective symptoms were observed in 96.8% of the patients. Among them, forgetfulness was noted in 89.7%, followed by irritability in 66.7%, headache in 59.6%, insomnia in 55.8%, limb pain in 46.8%, dull head feeling in 42.9% and dizziness in 36.5%. 3. Intellectual disturbances were observed in 68.6% of the patients, including impression disturbance in 58.3%, memory disturbance in 51.9%, calculation disturbance in 63.5%, thinking disturbance in 61.5% and disorientation in 14.1%. 4. Apathy and disorder of volition and interest which were found in 72.4% were included in personality change because all symptoms persisted for many years. Personality change was classified as follows: weakness of emotion and will (hypobulia) in 54.4%, infantilism in 35.2%, hyperactive, talkactive and lack of inhibition in 18.5%, lack of self-possession and unstable temper in 9.6%, depression in 15.3%, neurosis in 7.6% and schizophrenic state in 2.5%. Among these symptoms of personality change, weakness of emotion and will and infantilism were conspicuous among the patients who remained in a coma for more than 6 hours soon after the accident but showed no relationship with age. 5. Neurological symptoms that were found in 48.7% of the patients were classified as sensory disturbance in 25.6%, peripheral nerve symptoms in 16.0%, pyramidal symptoms in 14.1%, ataxia and cranial nerve symptoms in 7.1%, paroxysmal symptoms in 6.4% and focal symptoms in 4.5%, extrapyramidal symptoms in 21.8% (Parkinsonism in 4.5%, tremor in 10.9% and muscle rigidity in 16.0%) and vegetative symptoms in 37.2%. 6. At the time of investigation, 5 CO poisoning patients were classified as serious cases (3.2%), 20 as comparatively serious (12.8%) medium-degree cases, 28 as comparatively mild (17.9%) medium-degree cases, 37 as comparatively serious (23.7%) mild cases, 42 as comparatively mild (26.9%) mild cases, 24 (15.4%) as having symptoms which were not problematic, and 24 (15.4%) as having symptoms that markedly worsened due to complication. 7. A total of 138 (88.4%) cases had complications were classified as follows: 78 cases (50.0%) of hypertension, 62 cases (39.7%) of cerebral infarction, 24 cases (15.4%) of cardiac disturbance, 21 cases (13.5%) of diabetes mellitus, 14 cases (9.0%) of hepatic disturbance and six cases of silicosis (3.8%). 8. Cranial MRI was carried out for 129 cases (82.7%). Of the abnormal findings identified, cerebral atrophy accounted for 72.0% (93 cases), including moderate and severe cases in 47.2% (61 cases), pallidum lesion for 37.9% (49 cases), lacunar infarction (including cerebral infarction) for 52.7% (68 cases), and hippocampal atrophy for 18.6% (24 cases). Many cases of cerebral atrophy and hippocampal atrophy were observed in patients who remained in the initial coma for more than 12 hours and were 80 years of age or old. The cases of pallidum lesion were observed in patients who remained in the initial coma for more than 6 hours, and no relationship with age was found. The other findings, cerebral atrophy and lacunar infarction showed a slight relationship with age. 9. Among the moderate and serious cases of intellectual disturbance, cerebral atrophy constituted to 62.5%, lacunar infarction 68.7% and pallidum lesion 50.0%. Among the moderate and serious cases of personality change, cerebral atrophy constituted 78.5%, lacunar infarction 35.0% and pallidum lesion 50.0%. Moreover, among extrapyramidal symptoms, pallidum lesion constituted 58.6%, cerebral atrophy 55.1% and lacun
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PMID:[Long-term follow-up study on sequelae of carbon monoxide poisoning; serial investigation 33 years after poisoning]. 1050 96

Frontotemporal dementia (FTD) displays significant neuropathological and genetic heterogeneity among and within affected families. An early diagnosis is often difficult because cognitive symptoms are manifest only at a late stage of the disease. We have been studying a large pedigree segregating frontotemporal dementia (FTD) to which belong 34 identified affected persons, 11 of whom were personally examined. The kindred has been genealogically reconstructed; all FTD patients have been linked to the same ancestors who lived in the early 18(th) century (11 generations before the present one). Autosomal dominant transmission was evident. Clinical features were uniform within the kindred and met the Lund-Manchester criteria. Personality changes with absence of insight, lack of empathy and of social awareness manifested up to 5 years before medical advice was sought. Loss of fluency was the earliest neuropsychological sign, in the absence of memory, orientation and praxis deficits, which evolved late, together with hyperorality. Akinesia was observed early, rigidity appeared late, tremor was absent. Two patients showed myoclonus late in their evolution. No ALS signs were observed in this kindred. Mutations of the MAPt gene, coding for the Tau protein, were not detected in affected family members. Linkage studies excluded chromosomes 3 and 9 and gave indeterminate results that were model dependent for chromosome 17.
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PMID:A large Calabrian kindred segregating frontotemporal dementia. 1214 Jun 77

We report a patient who developed personality change, dementia and parkinsonism. The patient was a Japanese woman who died at age 76. She developed memory problems at age 63. At age 66, she started showing personality changes, and began having short-step gait and mask-like face. On admission to our hospital at age 68, neurological examination showed mild memory deficit and postural instability. Six months after discharge, she developed delusion, rigidity, tremor, and gait disturbance. Her condition relentlessly progressed and she became bedridden at age 71. CT scan revealed marked atrophy of the frontotemporal lobes with enlargement of the lateral and third ventricles. The patient died at the age of 76 years. The patient was discussed in a neurological CPC, and a chief discussant arrived at the conclusion that the patient had frontotemporal dementia. Some participants thought that she had Pick disease or diffuse Lewy body disease. Severe atrophy of the frontal lobe and anterior part of the brain was seen at autopsy. Neuropathological examination showed severe neuronal loss with gliosis in the substantia nigra, pallidum, thalamus, and hippocampus. Moderate loss of neurons with gliosis was seen in the frontal and anterior temporal cortex. Argyrophilic and tau-positive neuronal inclusions which showed various shapes including Pick body-like inclusions and globose type of neurofibrillary tangles, were seen in the cerebral cortex and caudate. Argyrophilic and tau-positive astrocytes were also observed in the cerebral cortex. The pathological diagnosis was an unusual form of frontotemporal lobar degeneration with various tau-positive inclusions.
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PMID:[A 76-year-old woman with personality change, dementia and parkinsonism]. 1636 41

Familial idiopathic basal ganglia calcification (Fahr`s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr`s disease have been reported, predominantly with autosomal-dominant fashion. The disease has a wide range of clinical presentations, predominantly with neuropsychiatric features and movement disorders. Psychiatric features reported in the literature include: cognitive impairment, depression, hallucinations, delusions, manic symptoms, anxiety, schizophrenia-like psychosis, and personality change. Other clinical features include: Parkinsonism, ataxia, headache, seizures, vertigo, stroke-like events, orthostatic hypotension, tremor, dysarthria, and paresis. Fahr`s disease should be considered in the differential diagnosis of psychiatric symptoms, particularly when associated with movement disorder. The disease should be differentiated from other conditions that can cause intracranial calcification. No specific treatment is currently available. Further research is needed to bridge the gap existing in our current knowledge of the prevalence, etiology, symptoms, and treatment of Fahr`s disease.
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PMID:Familial idiopathic basal ganglia calcification (Fahr`s disease). 2498 77

While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS), an increasing number of reports suggests that the primary phenotype of C9orf72 patients may also include movement disorders. We here provide the first systematic clinical characterisation of C9orf72-associated parkinsonism. We report a C9orf72 expansion carrier presenting with a clinical syndrome of progressive supranuclear palsy (PSP), pronounced mesencephalic atrophy on MRI and PSP-characteristic electrooculography findings. Moreover, we systematically review all previous reports on C9orf72 patients with parkinsonian features. Review of 28 reports revealed 45 C9orf72-positive patients with hypokinesia, rigidity and/or resting tremor. C9orf72-associated parkinsonism predominantly consisted in a hypokinetic-rigid syndrome without resting tremor (61%), with both asymmetric (59%) and symmetric (41%) distributions. Additional features included upper motor neuron signs (60%), lower motor neuron signs (36%), cognitive dysfunction (85%), behaviour and/or personality change (55%) and psychiatric symptoms (29%). Vertical supranuclear gaze palsy was reported in three further cases and cerebellar dysfunction in four cases. Family history frequently yielded evidence of ALS (31%) and FTD (21%). Atypical parkinsonism is a recurrent phenotypic manifestation of C9orf72 expansions. It occurs as part of a broad spectrum of C9orf72-related multi-system neurodegeneration, which can include basal ganglia, mesencephalic and cerebellar dysfunction. C9orf72 genotyping should be considered in those patients with atypical parkinsonism who present with a family history of ALS or FTD, upper or lower motor neuron signs and/or cognitive dysfunction with pronounced frontotemporal impairment.
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PMID:Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. 2681 Jul 19