Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four pedigrees of Machado-Joseph disease (MJD) were reported. Main clinical features of 21 patients in these pedigrees were cerebellar ataxia, limb spasticity, gaze nystagmus, facio-lingual twitchings, and external ophthalmoparesis. Amyotrophy, hypokinesia, or dystonia were manifested with advance of the illness. In patients with younger onset age, such extrapyramidal signs were dominated. Neuropathological study of one autopsied case disclosed that there were degeneration of spinocerebellar tract, anterior horn cells, pontine nuclei, dentate nucleus, red nucleus, substantia nigra, internal segment of globus pallidus, subthalamic nucleus, and motor nuclei of brain stem; neurons of cerebellar cortex and inferior olivary nucleus were preserved. From these clinical and pathological features, these 4 pedigrees satisfied the criteria of MJD, and were differentiated from hereditary olivopontocerebellar atrophy. Currently, MJD is accepted as a new entity of hereditary spinocerebellar ataxias. However, there are still controversies as to whether Azores-Portuguese MJD and Japanese MJD are identical disorder. Furthermore, the nosological relationship between MJD and a number of similar cases, as reported historically under the diagnosis of Brown type ataxia or Marie's ataxia, has not been clearly established. From reviewing such cases critically, pathological and clinical features of our cases are so similar to those of the latter, indicating that the probably identical genetic disorder has been classified under the different categories.
 ...
PMID:[Clinicopathological study of Joseph disease: report of 4 pedigrees and its nosological consideration]. 159

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.
 ...
PMID:The clinical aspects of adult hexosaminidase deficiencies. 184 98

Onset of a neurological disease was coincidental in two members of a family. The mother died at the age of 57 and her daughter at the age of 27 years. Clinically the disease was manifested by cerebellar ataxia, visual disturbances, dystonic movements and intellectual impairment which appeared very later in the course of the disease in the younger patient. Myoclonus was only observed in the mother. The EEG examination revealed non-specific abnormalities. CT scans disclosed severe cerebellar atrophy and reduced size of the pons in the daughter. The duration of the disease was 7 months in the mother and 3 years in her daughter. The neuropathological examination showed degeneration of the thalamus, substantia nigra and inferior olives, together with loss of Purkinje cells and axonal torpedos in the granular layer of the mother. Olivopontocerebellar atrophy, atrophy of the thalamus and substantia nigra, associated to typical spongiform encephalopathy of the cerebral cortex, amygdaloid complex and striatum occurred in the daughter. These observations let us to comment whether multisystemic atrophies may be fortuitously associated to different prion-induced encephalopathies, or may be found in the context of spongiform encephalopathies.
 ...
PMID:[Spongiform encephalopathy and multisystemic degeneration]. 186 55

One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
 ...
PMID:[A family of Machado-Joseph disease with a patient having frequent apnea in all day]. 191 27

The propositus (case 1) was a 40 year-old man. He had begun to note unsteady walking at age 26. He was found to have cerebellar ataxia and pyramidal signs in addition to minor features such as progressive external ophthalmoplegia, gaze nystagmus, bulging eyes, intention fasciculation-like movements of facial and lingual muscles, and limb dystonia. These findings were categorized into type II form of the disease. One sister (case 3) aged 37 years, and one brother (case 4) aged 44 years of the propositus had also type II form of the disease. His uncle (case 2) had the same cerebellar and extrapyramidal signs accompanied with peripheral nerve signs such as muscle wasting, weakness, hypo-tonus and decreased deep tendon reflexes, and a diagnosis of type III form of the disease was made. In the T2-weighted magnetic resonance imaging (1.5 T, TR 2000 or 3000 msec, TE 120 msec) of the three patients (case 1, 3 and 4), dorsolateral part of the putamen showed decreased signal intensity. Although hypo-intensity of the putamen is often observed in normal elderly people over 50 years old, it is considered to be abnormal when it exists in relatively young people as in this family members.
 ...
PMID:[A new family of Machado-Joseph disease--an abnormal decrease in signal intensity of the putamen in magnetic resonance imaging]. 224 34

A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, extrapyramidal signs, and peripheral neuropathy. Mode of inheritance was in all likelihood autosomal dominant. Blood components were typed for 19 conventional chromosome markers. Although association of the affected members with the PGM1 system was high, linkage analysis failed to reveal any markers studied with a lod score higher than 3. The unique constellation of symptoms appeared sufficient to rule out other types of spinocerebellar degeneration. When there is a typical case in a given family, MJD appears to be a clinically recognizable entity.
 ...
PMID:A large Japanese family with Machado-Joseph disease: clinical and genetic studies. 271 40

The patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included.
 ...
PMID:[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia]. 274 81

Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.
 ...
PMID:Joseph's disease: clinical and pathological studies in a Japanese family. 396 57

The authors report the clinical, instrumental and histopathological data observed in a 27 year old man, who died 20 months after the onset of a rapidly progressive neurological syndrome referable to a multitopic brain damage. The clinical picture, which at its fully developed stage was represented by supranuclear ophthalmoplegia, cerebellar ataxia, akinetic-rigid parkinsonism with axial dystonia and dementia, appeared consistent with the diagnosis of P.S.P. The histological examination showed degenerative changes of varied degree in the cerebellum, the brain-stem and the basal ganglia, but the neurofibrillary tangles characteristic of P.S.P. were not found, either with electron-microscopy. The case presented considerable difficulties regarding its nosological classification. Nevertheless, the lack of neuropathological findings of storage disease as well as the particular location of the degenerative lesions have induced the authors to consider it as an atypical form of sporadic O.P.C.A. in the field of M.S.A.
 ...
PMID:Sporadic multi-system atrophy with early onset and rapid fatal outcome (atypical O.P.C.A.?). Case report. 654 85

The patient we describe had cerebellar ataxia, slow eye movements, myoclonus, facial dystonia and signs of spinal cord and peripheral nerve involvement. The patient's mother, brother and sister died from the same disease. Neuropathological examination revealed lesions of olivo-ponto-cerebellar atrophy (OPCA) associated with spinal cord degenerative changes characteristic of Menzel's hereditary ataxia. Although myoclonus was similar to Hunt's dyssynergia cerebellaris myonica, pathological findings did not show significant involvement of the dentate nucleus or superior cerebellar peduncle and physiopathological hypotheses for myoclonus are discussed. Slow eye movement is emphasized in the propositus and we suggest that it could be specific of one type of OPCA. Its pathological significance is discussed, but a primitive and unique involvement of the paramedian pontine reticular formation is unlikely.
 ...
PMID:Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. 663 53


1 2 3 4 5 6 7 8 9 10 Next >>