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At least 973 records · Page 54Linked to original sources
PubMed1997

Mouse models of human CAG repeat disorders.

Expansions of CAG trinucleotide repeats encoding glutamine have been found to be the causative mutations of seven human neurodegenerative diseases. Similarities in the clinical, genetic, and molecular features of these disorders suggest they share a common mechanism of pathogenesis. Recent progress in the generation and characterization of transgenic mice expressing the genes containing expanded repeats associated with spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD/SCA3), and Huntington's disease (HD) is beginning to provide insight into the underlying mechanisms of these neurodegenerative disorders.

Animals↗
PubMed1988

Short-term stability of single motor unit recordings in motor neuron disease: a macro EMG study.

Thirty five individual macro EMG motor unit potentials in 13 patients with motor neuron disease were recorded every 15 minutes during a 2 hour period. No significant change in amplitude or area was seen in 15 control units in nine patients or in 20 units in 11 patients receiving RX77368 0.2-0.3 mg/kg. The findings provide no evidence for an action of this long acting TRH analogue on the peripheral territory of motor units in motor neuron disease.

Adult↗
PubMed1976

Muscular dystrophies and motoneuron diseases. A comparative electrophysiologic study.

Electrophysiologic investigations were carried out in 15 patients with limb-girdle muscular dystrophy, two patients with Becker's muscular dystrophy, and 22 patients with dystrophia myotonica. The results were compared with those obtained in 18 patients who had chronic progressive motoneuron disease and in 39 control subjects. These results were within normal limits in muscular dystrophies, with the exception of dystrophia myotonica, in which a neural disturbance is evident in the majority of patients. The results in motoneuron diseases were as expected for neurogenic disorders, loss of motor axons and compensatory increase of the amplitude of muscle potentials. There is no evidence of motoneuron dysfunction in muscular dystrophies, but in dystrophia myotonica, the muscles and nerves are affected independently by the pleiotropic gene of the disease.

Action Potentials↗
PubMed2002

[Parsonage-Turner syndrome and giant-cell arteritis].

Parsonage-Turner syndrome is an idiopathic brachial neuropathy affecting the 5(th) and the 6(th) roots. Giant-cells arteritis rarely affects the brachial plexus. In such cases, it can mimic Parsonage-Turner syndrome. We report a case focusing on clinical signs suggesting giant-cell arteritis.

Aged↗
PubMed2002

[Scapulo-peroneal weakness with tardive symptoms of facio-scapulo-humeral muscular dystrophy, connected to 4q35 chromosomal deletion].

We report the case of a 57-year-old woman, who presented with progressive weakness of ankle's dorsiflexors. Electromyography showed bilateral myogenic patterns in the anterior tibialis predominantly in the left side. Muscle biopsy of the right tibialis anterior showed non specific dystrophic changes. The familial evaluation revealed a son showing scapuloperoneal amyotrophy and facial involvement. Analysis of the propositus' DNA showed a mutation at locus 4q35, characteristic of facioscapulohumeral muscular dystrophy. This case illustrates the wide clinical spectrum of FSH dystrophy and the difficulty to diagnose unusual facial-sparing forms.

Chromosomes, Human, Pair 4↗
PubMedDate not supplied

Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study.

The clinical and pathological features, including electron microscopy of a sporadic case of neuroaxonal dystrophy with findings of both Hallervorden-Spatz syndrome (HS) and Seitelberger's disease (SD) are presented. The patient presented with a slowly progressive illness with seizures, extrapyramidal symptoms, cerebellar ataxia, dementia, spasticity, myoclonic movements and a severe demyelinating peripheral neuropathy with secondary muscular atrophy. Neuropathological examination disclosed cerebral and cerebellar atrophy and excessive pigmentation of the globus pallidus and substantia nigra. Spheroids were widely distributed within the central and peripheral nervous system. Numerous neurofibrillary tangles (NFTs) were found within the hippocampal cortex, neocortex and brain stem. Extensive granulovacuolar degeneration (GVD), Hirano bodies and Lewy bodies were also demonstrated. Severe loss of myelin from the peripheral nerves and muscular denervation were striking features. We wish to report this case which shares findings of both entities, HSS and SD.

Adult↗
PubMed1993

[Stark-Kaeser type scapulo-peroneal amyotrophy of neurogenic origin. Study of a familial case].

BACKGROUND: There are several types of the rare syndrome, scapuloperoneal atrophy; the report deals with a familial case of the Stark-Kaeser type. CASE REPORT: A 16 year-old Tunisian boy was admitted for "steppage" gait. His mother had distal myoatrophy of four limbs and pes cavus. His sister, aged 8 years, also had pes cavus. She had no tendon reflexes and electromyography showed evidence of muscular denervation with normal nerve conduction velocity. The "steppage" gait in our patient began when he was 6 years old. When he was examined at 16 years, there were bilateral atrophy of the sternocleidomastoid muscle, and atrophy of the scapular girdle and the peroneal muscles with loss of tendon reflexes; there was no sensory involvement. Nerve conduction velocity was normal and electromyography showed fibrillation and pseudomyotonia potentials. Creatine kinase activities were moderately increased. Muscle biopsy showed significant neurogenic type changes. CONCLUSION: This patient has a Stark-Kaeser type spinal amyotrophy, a well-individualized entity due to progressive degeneration of the anterior horn cells.

Adolescent↗
PubMed2006

Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.

Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron disease caused by a CAG-repeat expansion in the androgen receptor (AR) gene and for which no curative therapy exists. However, since recent research may provide opportunities for medical treatment, information concerning the natural history of SBMA would be beneficial in planning future clinical trials. We investigated the natural course of SBMA as assessed by nine activities of daily living (ADL) milestones in 223 Japanese SBMA patients (mean age at data collection = 55.2 years; range = 30-87 years) followed from 1 to 20 years. All the patients were diagnosed by genetic analysis. Hand tremor was an early event that was noticed at a median age of 33 years. Muscular weakness occurred predominantly in the lower limbs, and was noticed at a median age of 44 years, followed by the requirement of a handrail to ascend stairs at 49, dysarthria at 50, dysphagia at 54, use of a cane at 59 and a wheelchair at 61 years. Twenty-one of the patients developed pneumonia at a median age of 62 and 15 of them died at a median age of 65 years. The most common cause of death in these cases was pneumonia and respiratory failure. The ages at onset of each ADL milestone were strongly correlated with the length of CAG repeats in the AR gene. However CAG-repeat length did not correlate with the time intervals between each ADL milestone, suggesting that although the onset age of each ADL milestone depends on the CAG-repeat length in the AR gene, the rate of disease progression does not. The levels of serum testosterone, an important triggering factor for polyglutamine-mediated motoneuron degeneration, were maintained at relatively high levels even at advanced ages. These results provide beneficial information for future clinical therapeutic trials, although further detailed prospective studies are also needed.

Activities of Daily Living↗
PubMed1985

Non-familial, spinal segmental muscular atrophy in juvenile and young subjects.

Thirty-two cases of juvenile and adult onset, non-familial, spinal, segmental muscular atrophy seen in two widely separated geographical regions of India were studied over the last 15 years. The characteristic features were: the non-familial, non-endemic nature, the strictly segmental distribution from the clinical and EMG point of view, which involved either distal or proximal segments of one upper or lower extremity, the absence of involvement of cranial nerves of the pyramidal, sensory and autonomic nervous system, the very high male predilection and the very insidious progression. No definitive etiological factors could be incriminated.

Adult↗
PubMedDate not supplied

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement.

An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65. Dysphagia and dysarthria occurred soon thereafter. At age 78, impairment of gait developed and progressive wasting occurred in the limbs with an initial distal distribution. Electromyography of several limb muscles displayed a mixed myopathic and neurogenic pattern with giant potentials. Examination at autopsy revealed slight loss of neurons in the anterior horns of the spinal cord, with scanty ghost cells, neuronophagia, and central chromatolysis. By light microscopy the limb muscles showed moderate small-group atrophy with severe myopathy and target fibers. The viscerocranial muscles, including the ocular, vocal, and tongue muscles, demonstrated only myopathic change with the typical features of progressive muscular dystrophy. Advanced replacement by fibrous connective tissue and fat had occurred in both the viscerocranial and the lower limb muscles. The significance of neurogenic involvement in OPMD is discussed.

Aged↗
PubMed1983

Chronic asymmetrical spinal muscular atrophy.

The clinical and neurophysiological features of 18 cases of chronic asymmetrical spinal muscular atrophy are described. These were patients presenting with asymmetrical neurogenic atrophy involving one or more limbs who had no evidence of pyramidal tract dysfunction after 3 or more years of symptoms. There were twice as many males as females and the mean age of onset of the disorder was about 32 years. None of the patients had bulbar involvement. The tendon reflexes tended to be depressed. The distribution of muscle weakness in the limbs was very variable, and only slowly progressive. In 5 cases symptoms and signs were confined to the hands and forearms. Motor nerve conduction velocities to wasted muscles were slightly reduced but there was no evidence of generalised neuropathy. A diagnosis of chronic asymmetrical spinal muscular atrophy, as opposed to that of classical motor neurone disease, is favoured by an age of onset under 40 years, an absence of pyramidal signs or bulbar involvement after 3 years or more of symptoms, and depressed or absent tendon reflexes. The 2 conditions appear to be clinically distinct and prognosis is considerably better in chronic asymmetrical spinal muscular atrophy. The aetiology of this condition in unknown; it may be of relevance that 2 patients in this series had close relatives with Werdnig-Hoffmann disease.

Adult↗