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)

This article links two formerly separate areas of research associated with Parkinson's disease (PD): speech and memory. It is proposed that speech deficits occur in PD not merely at the level of muscular control, as is commonly termed dysarthria, but also at the level of speech planning and programming, more aptly described as a form of apraxia. It is further argued that PD patient groups exhibit small deficits in verbal span, and the link between apraxic speech and verbal span is elucidated via Baddeley's (1986) model of working memory. An experiment is described in which aspects of speech of 36 PD and 43 healthy control subjects were rated and classified, and measures of span and articulation rate for words of different syllable lengths were taken. Twenty-three PD subjects had dysarthric speech, while 14 of them had apraxic speech, which was associated with lower memory span scores for longer words. It is concluded that apraxic speech can be a source of reduced memory span in PD. In addition to implications for rehabilitation and therapeutic work with PD sufferers, these findings advance our theoretical understanding of the Parkinsonian syndrome.
Brain Lang 2000 Sep
PMID:The contribution of apraxic speech to working memory deficits in Parkinson's disease. 1095 Sep 19

Haemorrhages in the striatocapsular area, or striatocapsular haemorrhages (SCHs), have been regarded as a single entity, although the area is composed of several functionally discrete structures that receive blood supply from different arteries. We analysed the morphological and clinical presentations of 215 cases of SCHs according to a new classification method we have designed on the basis of arterial territories. SCHs were divided into six types: (i) anterior type (Heubner's artery); (ii) middle type (medial lenticulostriate artery); (iii) posteromedial type (anterior choroidal artery); (iv) posterolateral type (posteromedial branches of lateral lenticulostriate artery); (v) lateral type (most lateral branches of lateral lenticulostriate artery); and (vi) massive type. The anterior type (11%) formed small caudate haematomas, always ruptured into the lateral ventricle, causing severe headache, and mild contralateral hemiparesis developed occasionally. The outcome was excellent. The middle type (7%) involved the globus pallidus and medial putamen, frequently causing contralateral hemiparesis and transient conjugate eye deviation to the lesion side. About 50% of the patients recovered to normal. The posteromedial type (4%) formed very small haematomas in the posterior limb of the internal capsule and presented with mild dysarthria, contralateral hemiparesis and sensory deficit, with excellent outcome in general. The posterolateral type (33%) affected the posterior half of the putamen and posterior limb of the internal capsule and presented with impaired consciousness and contralateral hemiparesis with either language dysfunction or contralateral neglect. The outcome was fair to poor but there were no deaths. The lateral type (21%) formed large elliptical haematomas between the putamen and insular cortex. Contralateral hemiparesis with language dysfunction or contralateral neglect developed frequently but resolved over several weeks. The clinical outcome was relatively excellent except when the haematoma size was very large. The massive type (24%) formed huge haematomas affecting the entire striatocapsular area. Marked sensorimotor deficits and impaired consciousness, ocular movement dysfunctions including the 'wrong-way' eyes were observed quite frequently. The outcome was very poor with a case fatality rate of 81%. The clinico-radiological presentations suggested its origin was the same as the posterolateral type.
Brain 2000 Sep
PMID:Striatocapsular haemorrhage. 1096 49

We report a patient with acute promyelocytic leukemia (APL) involving the central nervous system. A 55-year-old male was admitted to our hospital with dysarthria and incomplete right hemiplegia. A CT scan of the brain revealed a low density area in the left cerebrum. APL was diagnosed by bone marrow aspiration and chromosomal analysis. The patient received all-trans retinoic acid (ATRA) in combination with chemotherapy. Complete hematological remission (CR) was obtained, and the patient's neurological symptoms improved. However, a cytospin smear of the cerebrospinal fluid after CR showed immature myelocytes ("intermediate cells") that had possibly been derived from leukemic promyelocytes. Comprehensive intrathecal treatment as well as cranial irradiation, caused a further reduction in dysarthria and a complete disappearance of hemiplegia with no atypical cells in the cerebrospinal fluid. The patient has undergone maintenance chemotherapy as an out-patient.
Leuk Lymphoma 2000 Sep
PMID:Detection of acute promyelocytic leukemia (APL) cells intermediately differentiated by all-trans retinoic acid in the cerebrospinal fluid: central nervous system involvement in APL. 1097 2

Spinocerebellar ataxia 8 (SCA8) is caused by a CTG repeat expansion in an untranslated region of a recently cloned gene on 13q21. The pathogenic role of this trinucleotide repeat was evaluated by examining 154 Finnish ataxia patients and 448 controls. Expansions ranging from 100 to 675 repeats were present in 9 (6%) unrelated patients and in 13 (3%) controls. There was a threefold excess of shorter expansions (<204 repeats) in the ataxia series, and the expansions tended to cluster in patients with a family history for the disease. Clinical and genetic data were subsequently collected from 15 patients. Common initial symptoms included gait instability, dysarthria, and tremor. A marked cerebellar atrophy in magnetic resonance imaging or computed tomography was found in all patients. Pyramidal affection was often seen, and various kinds of cognitive impairment were evident in 40% of patients. Disease progression was slow, and fluctuation of symptoms was commonly observed. A maternal penetrance bias was not seen, nor was there any clear-cut negative correlation between age of onset and repeat number. Meiotic but not mitotic instability of the repeat expansion was evident. Haplotype analysis suggests multiple origins for the Finnish spinocerebellar ataxia 8 repeat expansions.
Ann Neurol 2000 Sep
PMID:Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. 1097 42

The authors evaluated dysarthria and orofacial apraxia (OFA) in 10 patients with a clinical diagnosis of corticobasal degeneration (CBD). Nine patients were slightly dysarthric according to the French version of the Frenchay Dysarthria Assessment, which evaluates the motricity of the components of the vocal tract. The severity of dysarthria assessed by an intelligibility score was correlated to the global severity of the disease, but not to the duration of the disease. Voluntary movements of the tongue and the lips were impaired in all patients. OFA, evaluated with simple and sequential gestures, was present in nine patients. Sequential gestures were more frequently impaired. The score of OFA was not correlated to the severity of dysarthria, suggesting independent underlying mechanisms. Thus, when specifically assessed, dysarthria and OFA are more frequent in CBD than usually reported. We propose that the underlying pathophysiology is the result of a deficit in programming and execution of repetitive movements.
Mov Disord 2000 Sep
PMID:Dysarthria and orofacial apraxia in corticobasal degeneration. 1100 98

Pallido-luysio-nigral atrophy (PLNA) is a rare neurodegenerative disease in which the clinical and radiologic correlates have not yet been clearly established. A 62-year-old man insidiously developed dystonic postures, choreoathetoid movements, slowness, and stiffness, which initially affected the right hand and foot and progressively spread to the entire right side. T2-weighted magnetic resonance imaging showed increased signal intensity in both left and right medial pallida and in the left substantia nigra. Tests using HMPAO-SPECT and FDG-PET demonstrated left cortical hyperperfusion and hypermetabolism, whereas the left lenticular nucleus was slightly hypometabolic. At age 65, abnormal movements and postures involved all four limbs and the axis causing major gait disturbances, and facial and bulbar muscles atrophied resulting in dysarthria, dysphagia, and impaired breathing. Diffuse amyotrophy and fasciculations also appeared. Death occurred at age 66, 4 years after onset. At autopsy, severe bilateral neuronal loss and gliosis restricted to the pallidum, the subthalamic nucleus, the substantia nigra, and the hypoglossal nucleus were noted, accounting for the diagnosis of PLNA with lower motor neuron involvement. Progressive hemidystonia with adult onset represents an unusual clinical presentation for this disorder. Moreover, this observation indicates that a diagnosis of PLNA should be considered for specific magnetic resonance imaging, SPECT, and/or PET data, and suggests that in PLNA, pallidal dysfunction might play a key role in the dystonic presentation.
Mov Disord 2000 Sep
PMID:Pallido-Luysio-Nigral atrophy revealed by rapidly progressive hemidystonia: a clinical, radiologic, functional, and neuropathologic study. 1100 3

A 56 year old woman had a 19 month history of a severe subacute progressive cerebellar degeneration, peripheral sensory neuropathy, and urinary incontinence. She was confined to a wheelchair, needed assistance with eating, and her speech was almost unintelligible. No underlying cancer was found despite repeated investigations, and no autoantibodies were demonstrated. She received a 3-month course of intensive immunosuppressant therapy with intravenous immunoglobulin 400 mg/kg per day for 5 days every month, oral cyclophosphamide 50 mg twice or three times a day to maintain the total lymphocyte count between 500 and 750/mm(3), and prednisone 60 mg per day. She experienced dramatic subjective and objective improvement. The dysarthria and the upper extremity dysmetria disappeared, and she regained the ability to write and cook. The lower extremity ataxia improved and she became able to walk with a cane. Urinary incontinence disappeared. A trial of intensive immunosuppressant treatment is worth considering in a patient with a clinical syndrome resembling paraneoplastic disorders, even if an underlying neoplasm and autoantibodies are not demonstrated.
J Neurol Sci 2000 Sep 01
PMID:Successful immunosuppressant therapy of severe progressive cerebellar degeneration and sensory neuropathy: a case report. 1101 51

A 49-year-old man was admitted to our hospital complaining of dysarthria and involuntary movements of his neck and extremities. He had first begun to experience involuntary neck movements at the age of 40 and his symptoms gradually progressed thereafter. There was no family history of neurological disorders. On admission he showed memory disturbance, dysarthria, and choreic movements. The involuntary movements affected his face, neck, trunk, and extremities. MRI of the brain revealed atrophy of both the cerebral cortex and the head of the caudate nucleus. DNA samples for molecular analysis were obtained from the patient and both of his parents. In this pedigree, the father carried a premutated allele of 35 CAG repeats and transmitted an expanded allele of 43 CAG repeats to his son. Paternity and maternity were analyzed using a microsatellite marker located in a different chromosome. To our knowledge, this is the first report of a sporadic case of Huntington's disease in a non-caucasian population in which the disease prevalence is much lower than that in the caucasian population. A new mutation in the current Japanese population which shares the same mechanism as de novo mutation in Caucasians may have contributed to the frequency of HD in Japan at the present time.
J Neurol Sci 2000 Sep 15
PMID:De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington's disease. 1101 8

We report a sporadic case of spinocerebellar ataxia accompanied by later but severe involvement of the motor neuron system. A 72-year-old man began to show ataxia and dysarthria at age 66 years. Neurological examinations revealed saccadic eye movement, slurred speech, truncal ataxia, pyramidal sign, and urinary disturbance. Neither history of alcoholism nor hereditary factors were found. He developed muscular atrophy of the lower and upper extremities and limb ataxia within three years. Superficial and deep sensations were diminished in both feet four years after onset. Thus, he presented with cerebellar ataxia, bulbar sign, upper and lower motor neuron symptoms, sensory disturbance, and autonomic sign after six years at age 72. The level of serum, creatine phosphokinase (CPK) was increased, and muscle biopsy showed marked neurogenic change. Magnetic resonance imaging (MRI) revealed mild cerebellar and pontine atrophy. Although the combination of spinocerebellar ataxia and motor neuron disease is very rare, the present case suggests the inter-relation of the spinocerebellar and motor neuron systems, and presents peripheral neuropathy as a subtype of multisystem atrophy.
Neurol Res 2000 Sep
PMID:A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system. 1104 17

A rare case of sarcoid meningoencephalitis with no systemic lesion is reported here. A 58-year old man was admitted experiencing dull headache and speech disturbance. He had never received a diagnosis of systemic sarcoidosis. On admission, neurological examination revealed dysarthria, a defect of the right-side visual field and accelerated right Achilles tendon reflex. A T2-weighted MRI showed a high-intensity signal in the white matter of the left parieto-occipital lobe surrounded by severe brain edema with a mass effect. The meninges around the lesion were enhanced by gadolinium, but no enhancement was observed in the basal portion. Angiotensin-converting enzyme (ACE) activities of cerebrospinal fluid (CSF) and serum were within normal range. The level of interleukin-6 in the CSF was slightly elevated. Chest X ray films and chest CT revealed no abnormal lesions. Whole body gallium scanning showed a hot region only in the intracranial lesion. A brain biopsy was performed. Histological examination revealed typical granuloma of sarcoidosis accompanied by microvasculitis and epithelioid cell granuloma without caseous necrosis. Oral administration of prednisolone improved all symptoms and MRI findings. These observations suggest that release of cytokines from macrophages and epithelioid cells, as well as disruption of the blood-brain barrier due to microvasculitis, are involved in the mechanism responsible for producing lesions of sarcoid meningoencephalitis.
Rinsho Shinkeigaku 2000 Sep
PMID:[A case of sarcoid meningoencephalitis with an isolated supratentorial lesion]. 1125 86


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