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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion. 1040 93

Conduction of the central motor pathways after transcranial magnetic stimulation (TMS) was investigated in 7 patients with amyotrophic lateral sclerosis (ALS) and 1 case with primary lateral sclerosis (PLS). Threshold intensity, central motor conduction time (CMCT) and amplitude of the motor evoked potentials (MEPs) were evaluated. Threshold was abnormal in 85% of tested limbs, and CMCT prolonged and amplitude of the MEPs attenuated in 28.5% of patients with ALS. Abnormal CMCT was asymmetric and related to clinical score. MEPs were absent in lower limbs in PLS, with prolonged or attenuated amplitude of the MEPs in upper limbs. EMG showed widespread signs of lower motor neuron involvement in ALS, but not in PLS. Cranial MRI showed frontoparietal cortical atrophy, more marked in pre-central gyrus, and SPECT there was lower tracer uptake in the perirolandic area in the PLS patient. EMG examination, TMS, cranial MRI and SPECT can help in the diagnosis of PLS.
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PMID:Transcranial magnetic stimulation in amyotrophic and primary lateral sclerosis. 1042 99

Our aim was to investigate the corticospinal tracts (CST) in motor neurone disease, using MRI, and to correlate findings with clinical data. We studied 31 patients with amyotrophic (ALS) and eight with primary lateral sclerosis (PLS). The signal from the CST was classified into four grades on T2-weighted images, and compared to T2-weighted images of 37 age-matched control subjects. No abnormalities were seen in the CST on T1-weighted images and were rarely evident on proton-density weighting. Variable high signal in the CST was found on T2-weighted images in 35 patients, and in 29 control subjects. Our grades 0 and 1 were more frequent in control subjects, grades 2 and 3 more frequent in patients. We found no correlation between the high signal and clinical data, including the duration of the illness. We therefore conclude that this technique is neither sensitive nor specific except in grade 3 which is quite specific for ALS. In half the patients we found atrophy of the superior parietal gyrus, which merits further study.
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PMID:MRI of the intracranial corticospinal tracts in amyotrophic and primary lateral sclerosis. 1055 25

This article presents the findings relating to the European subgroup of 91 patients in an international survey of the current diagnosis and treatment of patients with amyotrophic lateral sclerosis (ALS). The mean time between first symptoms and first consultation with a physician was 4.9 months, and mean delay in seeing a neurologist was then about 6 months, yielding a mean time from symptom onset to confirmation of diagnosis of 17.8 months. The time to confirmation of diagnosis was slightly longer for patients with symptoms of limb onset (18.5 months) than for those with bulbar onset (17.5 months). Cases with symptoms of upper-limb onset were diagnosed more rapidly (15.5 months) than those with symptoms of lower-limb onset (21.8 months). The diagnosis was confirmed in 51% of cases within 15 months of symptom onset, and a further 23% were diagnosed within 15-24 months; 55% of cases were confirmed within 4 months of consultation with a neurologist, and a further 14% within 4-6 months. The first physician seen was the general practitioner in 68% of cases. When the neurologist was the first physician seen (7% in Germany, 13% in Italy, 0% in Spain), diagnosis was achieved within 14 months in 67% of cases. EMG was performed in almost all patients. MRI and CT were widely used, possibly causing delays. Announcement of the diagnosis was made immediately to 85% of patients and within 1 month to a further 9%. Riluzole was prescribed for 76% of patients overall.
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PMID:Current treatment pathways in ALS: a European perspective. 1056 Jun 30

This article presents the findings relating to the South American subgroup of 60 patients in an international survey of the current diagnosis and treatment of patients with amyotrophic lateral sclerosis (ALS). The mean time between first symptoms and first consultation with a physician was 3.7 months, and mean delay in seeing a neurologist was then 5.6 months, giving a mean time from symptom onset to confirmation of diagnosis of 16.6 months. The time to confirmation of diagnosis was much longer for patients with symptoms of limb onset (17.5 months) than for those with bulbar onset (10.0 months). Cases with symptoms of upper-limb onset were diagnosed more rapidly (14.9 months) than those with symptoms of lower-limb onset (21.8 months). The diagnosis was confirmed in 48% of cases within 15 months of symptom onset, and a further 27% were diagnosed within 15-24 months; 47% of cases were confirmed within 4 months of consulation with a neurologist and a further 17% within 4-6 months. The first physician seen was the general practitioner in 47% of cases overall. When the neurologist was the first physician seen (27% of patients in Brazil, 0% in Argentina), diagnosis was achieved within 14 months in 88% of cases. EMG was performed in almost all patients. MRI and CT were widely used, which may cause delays. Announcement of the diagnosis was made immediately to 75% of patients overall. Riluzole was prescribed for 23% of patients in Brazil and for 67% of patients in Argentina.
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PMID:Current treatment pathways in ALS: a South American perspective. 1056 Jun 31

Although the essential requirements for diagnosis of amyotrophic lateral sclerosis (ALS) are clearly defined by the El Escorial criteria, many physicians, including neurologists, still miss the diagnosis. Physician misdiagnosis of ALS relates to lack of knowledge about ALS and skill and to diagnostic difficulty. The differential diagnosis must exclude nonmotor neuron diseases and other adult-onset motor neuron diseases with restricted presentations, e.g., progressive bulbar palsy (pure bulbar), progressive muscular atrophy (pure lower motor neuron) and primary lateral sclerosis (pure upper motor neuron), ALS-like syndromes and ALS variants, and adult-onset spinal muscular atrophies. Although the diagnosis of ALS remains a clinical one, laboratory testing can be used to exclude other diseases and to confirm the diagnosis. Such tests include EMG and nerve conduction studies, MRI and CT of the spine and brain, identification of biochemical markers in blood and CSF, and muscle or nerve biopsy. Genetic testing can identify gene defects in some types of familial ALS and in certain other inherited motor neuron diseases that mimic ALS. At present there is no widely accepted protocol for laboratory testing in cases of suspected ALS, but it is hoped that laboratory tests will improve in the future to facilitate earlier confirmation of a diagnosis of ALS. However, correct and early diagnosis of ALS can only be achieved when the first, second, or third physician who sees the patient knows about ALS and includes it in a differential diagnosis.
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PMID:Diagnostic challenges in ALS. 1056 Jun 34

Although it is desirable to simplify the diagnosis of amyotrophic lateral sclerosis (ALS), it is not obvious how to achieve this. Although a simplified electrophysiologic approach can be easily performed, interpretation of the results in a complex differential diagnosis is far from simple. Genetic screening may potentially be useful but is still in its infancy, even in familial ALS. Spasticity scales are most informative when greater degrees of spasticity are present, but usually these cases can also be identified clinically. It is difficult to envisage simplifying the scales because bedside rating scales are inherently not good at the mild end of the spectrum. Although MRI may prove to be useful in simplifying the diagnostic procedure, at present the numbers of patients studied are too small and the findings not sufficiently specific. Among the major issues that must be decided are whether any of the newer diagnostic techniques are sufficiently reliable, sensitive, and specific to allow any further simplification, and whether paraclinical tests are acceptable surrogates for clinical phenomena. The diagnostic approach of moving a possible diagnosis of ALS into the category of probable ALS earlier by giving more weight to electrophysiologic findings appears to be the only option, together with a more rigorous approach to excluding disorders known to mimic ALS. The problem lies less in the specialist reaching a correct diagnosis than at the level of initial evaluation, where the suspicion of ALS may be raised in only 27-40% of cases.
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PMID:Simplifying the approach: what can we do? 1056 Jun 35

ALS-Plus syndrome occurs rarely and usually presents typical ALS phenotype associated with dementia, Parkinsonism or both. We reported a case of sporadic, definite ALS with pseudobulbar palsy, emotional lability and selective cognitive deficit in the presence of frontal lobe dementia. Neuropsychological tests predominantly demonstrated perserveration and dynamic apraxia, CT and MRI scans showed widened subarachnoideal spaces in the frontal and temporal regions. The neuropathological findings confirmed ALS processes i.e. atrophy of motor nuclei in brainstem and anterior horns of cervical spinal cord and showed mild atrophy and status spongiosus in the frontal lobes. These findings suggest the co-occurrence of sporadic ALS and frontal lobe dementia: ALS-Plus syndrome.
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PMID:ALS-Plus syndrome. A clinical and neuropathological case study. 1124 90

Two patients, men aged 35 and 72 years, had progressive muscle weakness, lower motor neuron signs in all extremities and upper motor neuron signs in the legs. There were no major sensory signs on examination. The clinical picture very much resembled amyotrophic lateral sclerosis (ALS), although there were never brain stem signs. Myelopathy and polyradiculopathies caused by a tandem cervical and lumbar spinal stenosis explained the clinical picture. Cervical MRI and lumbar CT confirmed this diagnosis. Laminectomy was done, after which both patients remained with unchanged symptoms. Tandem spinal stenosis should be part of the differential diagnosis of ALS. Imaging of the spine is necessary to confirm this diagnosis, and in the absence of bulbar signs always necessary prior to the diagnosis of ALS.
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PMID:[Suspected amyotrophic lateral sclerosis? Don't forget diagnostic imaging of the spine]. 1128 81

We aimed to increase confidence in the combined use of MRI and proton MR spectroscopy (1H-MRS) in diagnosis of amyotrophic lateral sclerosis (ALS). We investigated 12 patients with ALS, seven definite and five probable, taking into account clinical measures of motor neuron function. On T2-weighted images we found high signal in the corticospinal tract in six and low signal in the primary motor cortex in seven of the 12 patients. Atrophy of the precentral gyrus was apparent in all the patients apart from one with probable ALS. Absolute quantification of cerebral metabolites using 1H-MRS demonstrated a significantly lower mean concentration of N-acetylaspartate (NAA) in the precentral gyrus of patients with probable and definite ALS (8.5 +/- 0.62) than in control subjects (10.4 +/- 0.71; P < 0.001). NAA concentration in primary motor cortex correlated with Norris scale scores (r = 0.30; P < 0.0001) but not with the ALS Functional Rating Scale score or disease duration. Significantly lower levels of NAA were detected in patients with low signal in the motor cortex than in those without (P < 0.01). Mean choline (Cho) and creatine (Cr) values did not differ between patients with ALS and controls.
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PMID:Magnetic resonance imaging and 1H-magnetic resonance spectroscopy in amyotrophic lateral sclerosis. 1130 49


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