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PubMedDate not supplied

Motor neuron disease in the province of Turin, Italy, 1966-1980. Survival analysis in an unselected population.

We performed a population based survival analysis of all incident cases (220) of motor neuron disease (MND) in the province of Turin, Italy, during the period 1966-1980. 175 cases were diagnosed as amyotrophic lateral sclerosis (ALS), 43 as progressive muscular atrophy (PMA) and 2 as progressive bulbar palsy (PBP). The life-tables of MND, adjusted as to the "expected" mortality, showed a survival rate of 27.8% and 22.0% at 5 and 10 years, respectively. The course of PMA and ALS cases was different, with a 5-year survival rate of 66.8% and 17.7%, respectively. Nevertheless both life-tables showed a similar pattern with a rapidly fatal outcome in the first 3 years after diagnosis and a slower death rate in the following years. In each curve, the slopes suggested the presence of 2 subgroups with different prognosis. It is to be stressed that a percentage of PMA patients (25.7%) showed a rapidly fatal outcome and that a subgroup of ALS patients (26.6%) showed a relatively benign course. This might suggest a different individual susceptibility to the disease.

Adult↗
PubMed1992

[A cervical collar therapy for non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease)].

Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease) occurs predominantly in men in the second decade with unilateral weakness of the fingers and hand, and atrophy of the hand and forearm. The symptoms generally progress for 3-4 years after onset and then stop. Since the second decade is a very important period starting one's career, early stopping of the progression and possibly the improvement are essential. On the bases of the neuroradiological studies, a forward displacement of the posterior wall of the dural canal at the lower cervical level on neck flexion is presumed to be the main pathogenetic mechanism in this disease. On neck flexion, the spinal cord is compressed anteroposteriorly at C7 and C8 segmental levels. Pathological studies suggested that chronic microcirculatory disturbances in the spinal cord as the result of repeated flexion of the neck might produce necrosis of the anterior horns. We used a cervical collar for the prevention of neck flexion in 14 patients in the early stage and compared the results with those of 18 patients who had natural courses. In the therapy group, muscle weakness of the affected hand improved in 5 patients and the progression of the disease was stopped in 8 patients with the duration of 1.8 +/- 1.2 years, whereas the duration of progression of the natural course group was 2.9 +/- 1.6 years. Only one patient who could not tolerate the use of collar showed a slight progression. These results suggest that the cervical collar is a useful therapeutic tool in this disease.

Adolescent↗
PubMed1986

Degeneration of Betz cells in motor neuron disease. A Golgi study.

A morphological study using a modified Golgi impregnation technique was carried out on Betz cells in the motor area of eight patients with motor neuron disease (MND) and age-matched controls without abnormal neuropathological findings during routine examination. Betz cells were categorized as normal (type I), or those with moderate (type II) or marked (type III) degeneration of dendrites. Types II and III Betz cells tended to be dominant in the cases of MND, whereas type I Betz cells constituted the highest percentage in most of the control cases. The frequently observed morphological alterations of Betz cells in MND were accumulation of lipofuscin, degeneration or loss of dendrites, and reactive astrocytic gliosis around the Betz cell soma. It was suggested that Betz cell changes in MND are not only due to aging but also to evident pathological processes, since the above-mentioned findings were more extensive in the MND cases than in the control cases. Also, the so-called lower motor neuron disease belongs to one basic disease termed "motor neuron disease", because the pathological changes of Betz cells were observed even in cases of spinal progressive muscular atrophy alone or associated with progressive bulbar palsy, which are devoid of pyramidal tract degeneration and signs of upper motor neuron lesion.

Aged↗
PubMed2006

[Clinical characteristics of amyotrophic lateral sclerosis subsets].

Amyotrophic lateral sclerosis (ALS) is characterized by significant clinical variability. Different subsets are classically individualized: bulbar onset and limb onset ALS, sporadic and familial ALS, ALS-plus syndromes (characterized by the presence of atypical clinical features, e.g. extrapyramidal signs or dementia, in association with the classical phenotype of ALS) and Western Pacific ALS. In addition, ALS-related syndromes include progressive muscular atrophy, primary lateral sclerosis and progressive bulbar palsy. The recognition of ALS subsets and ALS-related syndromes is important in clinical practice since the prognosis may vary depending on the clinical presentation. The prognosis of bulbar-onset ALS is poor compared with the spinal-onset type. Primary lateral sclerosis, defined by pure upper motor neuron findings, has a more benign course than classical ALS. It has also important implications for therapeutic trials to ensure the homogeneity of clinical material since inclusion of atypical forms with different prognoses can skew the outcome analysis. This paper reviews the clinical characteristics of the ALS subsets and ALS-related syndromes.

Amyotrophic Lateral Sclerosis↗
PubMed2000

Motor neuron diseases in the university hospital of Fortaleza (Northeastern Brazil): a clinico-demographic analysis of 87 cases.

In this retrospective (1980-1998) study, we have analyzed clinico-demographically, from the records of the University Hospital of Fortaleza (Brazil), a group of 87 patients showing signs and symptoms of motor neuron diseases (MNDs). Their diagnosis was determined clinically and laboratorially. The WFN criteria were used for amyotrophic lateral sclerosis (ALS) diagnosis. The clinico-demographic analysis of the 87 cases of MNDs showed that 4 were diagnosed as spinal muscular atrophy (SMA), 5 cases as ALS subsets: 2 as progressive bulbar paralysis (PBP), 2 as progressive muscular atrophy (PMA) and 1 as monomelic amyotrophy (MA), and 78 cases of ALS. The latter comprised 51 males and 27 females, with a mean age of 42.02 years. They were sub-divided into 4 groups according to age: from 15 to 29 years (n= 17), 30 to 39 years (n= 18), 40 to 69 years (n= 39) and 70 to 78 years (n= 4). From the 78 ALS patients, 76 were of the classic sporadic form whilst only 2 were of the familial form. The analysis of the 87 patients with MNDs from the University Hospital of Fortaleza showed a predominance of ALS patients, with a high number of cases of juvenile and early onset adult sporadic ALS.

Adolescent↗
PubMed1986

A study of histocompatibility antigens in patients with motor neuron disease in the northern region of England.

Histocompatibility antigen (HLA A, B and DR) serotyping was performed on 65 patients with motor neuron disease in the northern region of England and compared to a large control population from the Newcastle upon Tyne area. Thirty two patients had amyotrophic lateral sclerosis, 17 had progressive bulbar palsy and 16 had progressive muscular atrophy. Ten patients had a more slowly progressive course. No significant HLA associations were observed in the motor neuron disease patients. Subdivision of the patients by the clinical course of their disease did not reveal any significant associations. Forty six motor neuron disease patients from the Newcastle upon Tyne area had a reduced frequency of HLA DR4 compared to the local control population. The relevance of histocompatibility antigens to the pathogenesis of motor neuron disease is discussed.

Adult↗
PubMed1992

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family.

We describe a family in which infantile Werdnig-Hoffmann disease and adult-onset progressive muscular atrophy both occurred. The possibility of these two diseases developing within the same family by chance is unlikely, and several genetic hypotheses may be put forward to explain the association. We suggest that the molecular pathogenesis of these two subtypes of lower motor neuron degeneration may be linked. The genetic defect in the childhood spinal muscular atrophies has been mapped to chromosome 5q in close proximity to the microtubule-associated protein 1B locus. The association of diseases within this family suggests that chromosome 5q should also be studied in relation to adult-onset familial motor neuron disease.

Aged↗
PubMed1953

Hyperinsulinism and neuromuscular disorders; a consideration of the association of pancreatic adenoma with wasting states.

Five cases, one reported herein, have been described in which progressive generalized muscle wasting, muscle fasciculations, increased myotatic irritability, and progressive motor disability were in evidence. In all of these cases, a pancreatic islet cell adenoma was present. In four of them arrest of the symptoms of muscular disease followed upon surgical removal of the islet cell adenoma. In the other case the tumor was not observed until postmortem examination, and in that case there was also histologic evidence of widespread and severe degeneration in the anterior horn cells of the spinal cord. The observations give rise to conjecture upon the possibility that endocrine dysfunction plays a part in the genesis of progressive muscular atrophy.

Adenoma↗
PubMed1997

[Neurological CPC.57. An 80-year-old woman with four years history of muscle atrophy involving lower extremities predominantly on the right side].

We report an 80-year-old woman with progressive muscular atrophy predominantly involving her right lower extremity. She was well until 1992 (75 years of age) when she noted an onset of weakness in her right leg which had got progressively worse. She was admitted to our service in July 1994. On admission, general physical examination was unremarkable. She was alert and well oriented without dementia. Higher cerebral functions were normal. Cranial nerves also appeared intact. She dragged her right leg in walking. Mild to moderate weakness (2/5 to 4/5) was noted in muscles in her right lower extremity more in the distal part. Deep tendon reflexes were within normal limits, and the plantar response was flexor bilaterally. Sensation was intact. Laboratory examinations were also unremarkable except for slight increase in CK which was 470 IU/l. CSF was also normal. EMG revealed neurogenic changes in the lower extremities. She was admitted to Aoki Hospital on October 21, 1994, by that time, her weakness in the right lower extremity had gotten worse in that the muscle strength of the right extensor hallucis longus was 0 and tibialis anterior 2; muscle atrophy was also prominent in her right leg; the right ankle jerk could not be elicited. In the subsequent course, weakness and atrophy appeared in her left lower extremity, however, upper extremities and cranial nerves had never been affected. Babinski sign was always negative. In February 1996, she developed delusional ideation of self persecution, and showed difficulty in communication with medical staffs. She developed fever of 38.7 degrees C on June 13, 1996 expired on the next day. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that the patient had a form of spinal muscular atrophy. Opinions were divided between ALS and spinal muscular atrophy. Post-mortem examination revealed marked loss of anterior horn neurons in the lumbar area with astrogliosis. Bunina bodies were seen in some of the remaining neurons. No myelin pallor was noted in the pyramidal tracts, however, atrophy and loss of Betz cells were noted in the motor cortex. Other cortical areas were unremarkable. The neuropathologist arrived at the conclusion that the patient had ALS. This patient was unique in that she had asymmetric atrophy and weakness limited to the lower extremities. This is quite unusual as ALS of four years duration. In addition, the patient developed some mental change which was thought to represent dementia by some participants. But no clear morphologic changes were seen to account for her mental change.

Aged↗
PubMed1980

Late onset spinal muscle atrophy--a sex linked variant of Kugelberg-Welander.

A syndrome of progressive muscular atrophy in reported in male members of a Caucasian family. Two affected members were examined in detail, one with post mortem. Fasciculations and atrophy of tongue as well as of the proximal limb muscles were observed, and there was profound weakness of the proximal muscles. The EMG and muscle biopsy were consistent with a neurogenic disease. The most pronounced lesion was in the lateral part of the anterior horn, with minimal involvement of the ventral portion of the anterior horns and sparing of the neurons of Clarke's column. Two earlier families with possible Kugelberg-Welander syndrome have been reported in which a sex-linked form also seems probable, and the varied inheritance pattern and uncertain pathological correlations suggest that the Kugelberg-Welander and familial amyotrophic lateral sclerosis both represent heterogenous neurological disorders.

Adult↗
PubMed1994

[Juvenile muscular atrophy of the bilateral upper limbs associated with peculiar transformation of the dural tube induced by neck flexion].

We described an 18-year-old man with slowly progressive muscular atrophy in upper limbs on both sides. Regarding muscular atrophy, sensory disturbances in both palms were disproportionally very mild. Electrophysiological study suggested involvement of anterior horn restricted to the cervical cord, which resembled juvenile muscular atrophy of unilateral upper limb (Hirayama's disease). This patient, however, was unique in that the atrophy was bilateral and wider distribution of a lesion from C5 to T1 segments unlike Hirayama's disease. Neuroradiological findings in neutral position of the neck showed no abnormalities, but in flexion there was a characteristic change of the cervical cord and the posterior wall of dural canal. On myelography in flexion, anterior-posterior diameter of the middle and lower cervical dural canal decreased presumably due to an anterior shift of the dorsal part of dura mater. CT-myelography in neck flexion showed characteristic folding of the dorsal part of dura mater whose median portion seemed to intrude anteriorly and consequently concave the spinal cord. Anterior shift of the dorsal part of dura mater is known to occur in Hirayama's disease, but the folding is a peculiar finding in this patient. After laminectomy and laminoplasty of vertebrae from C3 to C7, his symptoms improved a little. On palpating the dorsal surface of dural canal, its median portion was harder than the lateral portion. A small fraction of the dura mater which was removed from hard median portion was thick, but showed no histological abnormalities. In normal functioning anatomy the dural canal is lengthened more posteriorly than anteriorly with neck flexion.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2000

[Where fronto-temporal dementia should be placed in the history of Pick's disease and related disorders].

Pick syndrome, non-Alzheimer type dementia with primary degeneration in the anterior portion of the brain, has been shown to include several disease-entities besides classic Pick's disease. Fronto-temporal dementia (FTD) proposed by Lund & Manchester group is a concept that includes Pick's disease, and its "clinical diagnostic features" are useful because they distinguish dementia with frontal and anterior temporal involvement from Alzheimer type dementia. FTD is classified into three types, the frontal lobe degeneration (FLD) type, Pick type and motor neuron disease (MND) type, and neuropathological diagnostic features of each type are presented. In Japan, however, cases neuropathologically corresponding to the FLD type, which has mild frontal dominant degeneration with heavy heredity, have not been previously reported. Classic Japanese Pick's disease is consistent with Pick type, however, cases of Pick's disease with and without Pick body exist in nearly the same number in Japan. The latter may include heterogeneous types, which should be elucidated. MND type corresponds to Japanese cases, called Yuasa-Mitsuyama disease or dementia with motor neuron disease, and could be actually diagnosed because such patients do not exhibit severe personality change and accompany symptoms of amyotrophic lateral sclerosis or spinal progressive muscular atrophy in their clinical course. In addition, Pick syndrome includes progressive subcortical gliosis, corticobasal degeneration, basophilic inclusion body disease and fronto-temporal dementia with parkinsonism linked chromosome 17. Progressive aphasia and semantic dementia are neuropsychologically important concepts, however, they are symptom-complex and are dominated only by where the degeneration begins and how it progresses. They should not be confused with pathologically confirmed disease-entities.

Dementia↗
PubMed1993

Onset, natural history and outcome in idiopathic adult motor neuron disease.

Cases of adult-onset idiopathic motor neuron disease (MND) identified from January 1970 through December 1986 were studied in a defined area of California. The patients were followed prospectively throughout the illness in 99% of cases. Among 708 cases aged 25-74 years at onset, the most common type (86%) was typical, sporadic amyotrophic lateral sclerosis (SporALS). The risk of bulbar onset and shorter survival times increased with age in both men and women. About 4%, mainly younger men, experienced unusually long courses with milder paralysis, but could not be identified early in the illness. They probably represent one extreme of the ALS spectrum rather than a distinct subtype. Familial ALS (FamALS) was diagnosed in 7%. It developed earlier in life but ran a slightly longer course, which suggests a different disease process. Overall there was a statistically significant predominance of males, especially in 17 cases (2%) of progressive muscular atrophy (PMA). There were 26 cases (4%) classified as primary lateral sclerosis (PLS). Progressive bulbar palsy was not found; that diagnosis usually denotes merely the bulbar onset of ALS.

Adult↗
PubMed1992

[Spinal muscle atrophy in Brown Swiss x Braunvieh cross calves].

The report describes seven SMA-cases in descendents of crossbreeds of American Brown Swiss x Deutsches Braunvieh. Symptoms and course: After initially normal development of the calves for one to six weeks the disease set in suddenly followed by a rapid lethal course of one to one and a half weeks duration due to asphyxia and/or secondary diseases. Only one case was reported having been sick since birth (?). Characteristic signs were rapidly progressing muscular atrophy, paresis and paralysis of the limbs, the trunk and the diaphragm, usually accompanied by progressive dyspnoea. Signs of congenital neuromyodysplasia (arthrogryposis) of different degree were present in four of the seven calves. Six calves had contracted a secondary pneumonia. Blood gas analysis (6/7) revealed a compensated (1x) or decompensated (4x) respiratory acidosis. Neurohistological findings: Degeneration and loss of motor neurons in the ventral horns of the spinal cord and neurogenic muscular atrophy. Immunohistochemistry revealed a pronounced accumulation of type 200 kD-neurofilaments in perikarya and dendrites of ventral horn motoneurons indicating disturbed mechanisms of the axonal transport. The disease seems to be inherited as a recessive trait.

Animals↗
PubMed1973

Oculopharyngeal involvement in familial neurogenic muscular atrophy.

A Japanese family with progressive spinal muscular atrophy is presented. Seven members in two generations were affected and the mode of inheritance was probably an autosomal recessive trait. A characteristic feature of this family was the presence of oculopharyngeal involvement in some of the affected members, in addition to the variable distribution of muscular atrophy among each of the affected members, such as mainly proximal or distal atrophies in the limbs. In one case the oculopharyngeal weakness appeared without limb involvement. The changes in the extremities were thought to be of neurogenic origin, and so was the progressive external ophthalmoplegia seen characteristically in these cases, although the latter was similar to ocular myopathy.

Action Potentials↗
PubMed2004

Proinflammatory cytokines and skeletal muscle.

PURPOSE OF REVIEW: Metabolic abnormalities leading to a catabolic syndrome with progressive muscular atrophy are a common final stage of various chronic diseases. Proinflammatory cytokines have been suggested both to induce and mediate local catabolic mechanisms. This review focuses on the role of proinflammatory cytokines in the development of muscular abnormalities resulting in a loss of muscle mass and function. In addition, the underlying molecular signaling pathways, their transcriptional regulation, and the cellular systems contributing to enhanced muscular protein breakdown are discussed. RECENT FINDINGS: Using transcriptional screening techniques, specific changes in gene expression have been identified that are characteristic of muscular wasting processes. Of particular interest is the atrophy-related and cytokine-inducible expression of a number of E3 ligases (e.g. atrogin-1, muscle ring finger protein 1), highly specific regulators of the ubiquitin-proteasome pathway, which target proteins for proteolytic breakdown by the proteasome. Furthermore, the activity of several transcription factors (e.g. nuclear factor kappa B) has been involved in specific transcriptional mechanisms of local inflammation and muscular atrophy. Finally, proinflammatory cytokines suppress the expression and function of the local anabolic growth factor insulin-like growth factor 1. SUMMARY: Pronounced catabolic effects of proinflammatory cytokines in various tissues contribute to local catabolism, with progressive atrophic alterations of the skeletal muscle in chronic disease states. Recent developments in this field have explored the underlying pathways of muscular wasting and have already resulted in the description of new molecular targets that might lead to new therapeutic options for the treatment of muscular atrophy.

Chronic Disease↗
PubMed1991

Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings.

A previously unreported association between a familial predisposition to colonic neoplasia and familial adult onset lower motor neuron (LMN) degeneration is reported. Two brothers presented at the ages of 53 and 44 years with multiple colonic adenomata and invasive colonic carcinoma respectively. Subsequently both developed a virtually identical pattern of motor neuron disease of progressive muscular atrophy type. At presentation both had LMN weakness affecting predominantly the upper limb and neck muscles. The disease progressed rapidly to involve the lower limb and bulbar musculature and both brothers died after a 15 month course. Necropsy was performed on one brother and showed pathological changes confined to the LMNs with no evidence of involvement of the pyramidal tracts or motor cortex. The combination of these diseases in two brothers may be of importance in the search for genes responsible for familial motor neuron disorders. It is suggested that a genomic search should be directed initially to the vicinity of known colon neoplasia genes, particularly 5q, 17q and 18q.

Adenocarcinoma↗