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PubMed2000

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.

Spinal muscular atrophy (SMA) is caused by mutations in the SMN (survival of motor neurons) gene and there is a correlation between disease severity and levels of functional SMN protein. Studies of structure-function relationships in SMN protein may lead to a better understanding of SMA pathogenesis. Self-association of the spinal muscular atrophy protein, SMN, is important for its function in RNA splicing. Biomolecular interaction analysis core analysis now shows that SMN self-association occurs via SMN regions encoded by exons 2b and 6, that exon 2b encodes a binding site for SMN-interacting protein-1 and that interaction occurs between exon 2- and 4-encoded regions within the SMN monomer. The presence of two separate self-association sites suggests a novel mechanism by which linear oligomers or closed rings might be formed from SMN monomers.

Antibodies, Monoclonal↗
PubMed2003

Use of power mobility for a young child with spinal muscular atrophy.

BACKGROUND AND PURPOSE: Young children with severe motor impairments, such as spinal muscular atrophy, are often unable to move around their environment independently; therefore, they may be at risk for delays in areas of development not directly related to their motor limitations. Power mobility is an intervention that provides young children a means of independent movement and enables them to independently explore their environment. CASE DESCRIPTION: The participant was a 20-month-old girl with type II spinal muscular atrophy. INTERVENTION: The authors provided the child with a power wheelchair and gave her mother and physical therapist general guidelines to encourage her use of the power wheelchair. OUTCOMES: Within 6 weeks after receiving the power wheelchair, the child operated the wheelchair independently. She showed developmental gains in all domains of the Battelle Developmental Inventory and the Pediatric Evaluation of Disability Inventory over 6 months. The authors conducted an interview with the child's mother before and after intervention. She reported that the child was more independent after receiving the power wheelchair. DISCUSSION: The power wheelchair may have been associated with the changes in the child's mobility and her developmental changes over 6 months.

Child Development↗
PubMed1983

Adult spinal muscular atrophy. A report of four cases.

Four cases of spinal muscular atrophy (SMA) are reported, 3 with detailed autopsy findings. These are compared with 2 cases of typical amyotrophic lateral sclerosis (ALS) with neuropathological data. The 3 autopsy cases of SMA only showed decreased numbers of anterior horn cells in the spinal cord, with no change in the cortical pyramidal cells, including the Betz cells, and no degeneration of the pyramidal tracts, while the ALS cases showed loss both of lower and upper motor neurons and degeneration of the pyramidal tracts. In our opinion, the infantile, juvenile, adult, and late-life forms of SMA are really a single disease entity that occurs at varying ages and is separate from ALS. The term lower motor neuron disease would be preferable because the lesions are not limited to the spinal cord, but also occur in the brain stem.

Adult↗
PubMed1991

A sporadic case of bulbospinal muscular atrophy of late onset.

We describe a 72-year-old male with bulbospinal muscular atrophy (BSMA) who was being treated for diabetes mellitus and congestive heart failure due to an old myocardial infarction. Although BSMA is a rare form of X-linked spinal and bulbar muscular atrophy of late onset, this case is a sporadic case. We emphasize the importance of recognizing a sporadic case of BSMA.

Age Factors↗
PubMed1992

[Spinal muscular atrophy in Braunvieh calves].

Clinical, neurophysiological and histopathological findings of sixteen cases of spinal muscular atrophy in calves are described. The first clinical signs usually were noticed at 2-6 weeks of age. The animals showed weakness in the hindquarters, trembling and ultimate recumbency. There was a marked muscular atrophy in all four extremities. In addition, secondary bronchopneumonia was evident in 11 cases. Histopathological lesions consisted of degenerative changes in the neurons of the ventral horns and the axons of the spinal cord as well as degeneration of nerve axons in the extremities. Neurophysiological measurements revealed spontaneous activity in the muscles of the limbs. The conditions is autosomal recessive. So far 11 bulls have been identified and excluded from breeding.

Animals↗
PubMedDate not supplied

[Progressive spinal muscular atrophy of proximal location in adults].

The authors report two cases of familial progressive muscular atrophy of proximal localization, with late onset of signs which was associated with involvement of the motor nucleus of trigeminal nerve and hypoglossus nerve nucleus as well as with presence of gynaecomastia. Cases of coexistence of gynaecomastia with spinal muscular atrophy are rare in the literature and the present report may serve for explanation whether the association of these signs is accidental or whether it is a separate nosological entity.

Age Factors↗
PubMed1993

Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.

The spinal muscular atrophies (SMA) are among the most common autosomal recessive disorders. We have performed linkage analysis using both standard restriction fragment length polymorphisms (RFLPs) as well as microsatellite polymorphisms [Ca(n)] on 49 Canadian SMA families (types 1, 2, and 3) that both flank and are linked to SMA. The closest SMA linkage was observed with the MAP1B locus (zmax = 8.04, theta max = 0.0). Multipoint linkage analysis gave a high probability of SMA mapping between D5S6 and D5S39. Only one family (type 3) that fulfilled our diagnostic criteria for SMA showed nonlinkage with 5q13 markers. This study shows the feasibility of accurate molecular diagnosis of SMA utilizing 5q13 satellite polymorphisms.

Canada↗
PubMed2004

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations.

Chromosome Mapping↗
PubMed1999

Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, invariably lethal disease resulting from the premature death of motor neurons of the motor cortex, brainstem, and spinal cord. In approximately 15% of familial ALS cases, the copper/zinc superoxide dismutase gene is mutated; a juvenile form of familial ALS has been linked to chromosome 2. No cause has been identified in the remaining familial ALS cases or in sporadic cases and the selective neurodegenerative mechanism remains unknown. Deletions in 2 genes on chromosome 5q, SMN (survival motor neuron gene) and NAIP (neuronal apoptosis inhibitory protein gene), have been identified in spinal muscular atrophy, a disease also characterized by the loss of motor neurons. These genes are implicated in the regulation of apoptosis, a mechanism that may explain the cell loss found in the brains and spinal cords of patients with ALS. OBJECTIVE: To determine whether the mutations causing neurodegeneration in spinal muscular atrophy are present in patients with ALS in whom the copper/zinc superoxide dismutase gene is not mutated. PATIENTS AND METHODS: Patients in whom ALS was diagnosed were screened for mutations in the SMN and NAIP genes by single strand conformation analysis. RESULTS: We found 1 patient with an exon 7 deletion in the SMN gene; review of clinical status confirmed the molecular diagnosis of spinal muscular atrophy. No mutations were found in the remaining patients. CONCLUSION: The SMN and NAIP gene mutations are specific for spinal muscular atrophy and do not predispose individuals to ALS.

Amyotrophic Lateral Sclerosis↗
PubMed1989

[Infantile spinal muscular atrophy].

The authors report 100 cases with prolonged spinal muscular atrophy (SMA) and survival beyond 4 years old. There were 46 boys and 54 girls. 23 of them had histories with an autosomal recessive form of inheritance. One case had a dominant form. The unity of cases described as Werdnig Hoffman disease [SMA I, SMA II (Childhood), ans SMA III (Kugelberg Welander)] is supported and our cases fell in three groups according to their ambulatory capabilities: never acquired, lost, or retained. 71 cases have never walked: the onset of symptoms was noted at an average age of 6.4 months +/- 3; the average age at the last examination was 16 years (4-39). Death occurred in 6 cases. Loss of walking occurred in 24 cases: the onset of symptoms was noted at an average age of 17.4 months +/- 14.2. 5 cases were still ambulatory: the onset of symptoms was noted at an average age of 2.4 years +/- 2.8. For these last 29 cases the average age at the last examination was 20 years (4-38); death occurred in two cases. The weakness was symmetrical and proximal. The period of worsening varied but, frequently, patients with a later onset of symptoms had a longer period of deterioration. Tongue fasciculations were present in all cases who never walked. Facial and masseter weakness occurred in 3 cases. Oesophagus dyskinesia and distension of the stomach due to brain stem lesions occurred in many cases. This brain stem damage was responsible of 2 sudden deaths (8-30 years). Premature puberty occurred in 14 cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1981

X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?).

X-linked spinal and bulbar muscular atrophy of late onset is a rare variety of motor neuron disease. In this report a Greek family with 2 affected brothers is described. It is interesting that all Greek cases of this disease originate from a small group of Greek islands. Transient fatigue is an additional feature of the disease which is manifested sometimes before other symptoms are apparent. The progression of the disease appears to be faster than in spinal muscular atrophy of Wohlfart-Kugelberg-Welander. Regarding the name of this disorder, we propose the descriptive term, 'X-linked spinal and bulbar atrophy of late onset' or 'Kennedy-Stefanis disease.

Brain Diseases↗
PubMed1976

Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy: light- and electronmicroscopic studies of serial nerve biopsies.

Serial nerve biopsies were performed at an early, and at an advanced stage of the disease in 2 patients with progressive neural muscular atrophy. The early biopsy showed a complete loss of the large diameter and thickly myelinated fibres, as well as an expansion of the endoneurial interstitium in both cases. Myelinated and unmyelinated fibres exhibited axonal degeneration in all biopsies occasionally. "Onion bulb" formation, a typical feature of peripheral neuropathy in neural muscular atrophy, was found to be prominent only in the latter biopsies. As regards the formal pathogenesis of hypertrophic neuropathy in neural muscular atrophy, axonal dystrophy and interstitial changes of the endoneurium were regarded as primary phenomena, demyelination and "onion bulb" formation as secondary. A possible causal relation between axonal dystrophy and interstitial changes, observed in these cases, is discussed in the light of the present literature.

Adolescent↗
PubMed1999

Process measures and patient/parent evaluation of surgical management of spinal deformities in patients with progressive flaccid neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular atrophy).

STUDY DESIGN: Fifty-four consecutive patients with flaccid neuromuscular scoliosis (33 with Duchenne's muscular dystrophy, 21 with spinal muscular atrophy) who had undergone surgery for their disorder between 1985 and 1995 were sent questionnaires to evaluate function, self-image, cosmesis, pain, pulmonary status, patient care, quality of life, and satisfaction. Forty-eight patients returned the questionnaires. OBJECTIVE: To assess patient/parent satisfaction and clinical/functional ways in which spinal fusion helped or did not benefit these patients and to assess complications and the ultimate radiographic result. SUMMARY OF BACKGROUND DATA: There are only a few reports of results of spinal fusion and segmental instrumentation for flaccid neuromuscular disorders. There are no published reports regarding patient/parent evaluation of the procedure. METHODS: Results of the questionnaire were tallied, graded, and divided into eight categories. The questionnaire was validated by a Cronbach's alpha analysis, a test-retest, and a comparison with questionnaire answers from patients with idiopathic scoliosis. Radiographic data and complications also were accumulated. The follow-up periods after surgery ranged from 2 to 12.6 years (average, 7.8 years). RESULTS: Except for two patients who died within 3 months of surgery, all patients seemed to have benefited from the surgery. Cosmesis, quality of life, and overall satisfaction rated the highest. CONCLUSION: These data indicate that spinal fusion with segmental spinal instrumentation benefits most patients with Duchenne's muscular dystrophy or spinal muscular atrophy with spinal deformities in terms of all categories assessed, even though these diseases have a progressively deteriorating course.

Adolescent↗
PubMed1987

Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

A girl with rapid-onset, bulbospinal muscular atrophy and deafness is described. The patient's mother and brother showed EMG features consistent with subclinical involvement. T is bulbospinal form of spinal muscular atrophy associated with deafness described by Vialetto and van Laere closely resembles the Madras type of motor neuron disease, also associated with deafness, described by Jagganathan and colleagues.

Adolescent↗
PubMed1999

Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype.

The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by paediatricians. It usually presents at birth or within the first few months of life. There is general hypotonia, with axial and limb weakness; the legs are affected more than the arms and proximal muscles more than distal, leaving residual spontaneous activity in the feet and in the forearms and hands. Facial muscles are spared so that the infant usually has a bright normal expression. The intercostal muscles are always affected, whereas the diaphragm is spared, allowing adequate spontaneous respiratory activity until the infants are precipitated into respiratory failure by an incidental respiratory infection, or aspiration. With rare exception they die by 2 years of age with a median around 7 months and with about 80% of the children dying by the time they are 1 year old. There is a consistent homozygous deletion in exons 7 and 8 of the telomeric copy of the survival motor neuron (SMN) gene. In the current issue of the journal, MacLeod and her colleagues have documented five cases of more severe spinal muscular atrophy, with a history of diminished fetal movements in utero and presenting at birth with asphyxia and severe weakness.

Cell Survival↗
PubMed1990

[Progressive infantile spinal muscular atrophy. Report of 12 cases].

Twelve children with progressive spinal muscular atrophy were seen at Santo Antonio Children Hospital, Porto Alegre. Diagnosis was based on neurological evaluation, serum enzymes, electroneuromyography and muscle biopsy. Several aspects are discussed by the authors, especially those concerning the presentation mode of the illness and the laboratory investigation. Our results are reviewed under the light of the current literature.

Child, Preschool↗
PubMed1981

Distal spinal muscular atrophy and ophthalmoparesis. A case with selective type 2 fiber hypotrophy.

A patient had distal muscular atrophy involving the upper and lower extremities, ptosis of the lid, and ophthalmoparesis and cataracts. Muscle histochemistry and electromyographic examination showed lower motor neuron involvement. This case is similar to others described in the literature and designated as distal spinal muscular atrophy. The unique association with ophthalmologic signs can be considered either as a variant form of the disease or as a separate entity. Muscle biopsy showed selective type 2 muscle fiber hypotrophy in the biceps. A second biopsy specimen of the quadriceps showed type grouping with persistence of small type 2 fibers, suggesting that reinnervation capability is independent of neuronal trophic influence.

Child, Preschool↗