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PubMed2001

Acute onset of infantile spinal muscular atrophy.

Two patients with acute generalized weakness and areflexia are presented. The electrophysiologic studies in both revealed evidence of decreased conduction velocity and mixed axonal and demyelinating neuropathy, suggestive of the diagnosis of Guillain-Barré syndrome. The young ages of the patients and their failure to respond to immunoglobulin therapy were the major clues to the final diagnosis of spinal muscular atrophy type I. Blood for DNA study revealed homozygous deletion mutation in exons 7 and 8 of the survival motor neuron gene. This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because Guillain-Barré syndrome in this age group is rare.

Acute Disease↗
PubMed1990

Hereditary canine spinal muscular atrophy: canine motor neuron disease.

Motor neuron diseases, manifest as weakness and atrophy of skeletal muscles, occur in infancy, childhood, and adult life. Some forms of this disease are inherited. Motor neurons are selectively affected and exhibit cytoskeletal pathology, primarily enlargements of proximal axons by accumulations of transported neurofilaments. A motor neuron disease, hereditary canine spinal muscular atrophy, has been discovered in Brittany spaniels. The disease is inherited as an autosomal dominant characteristic and shows striking clinical and pathological features in common with human motor neuron disease. The availability of this excellent animal model of the human condition has allowed neurobiological investigations of the dynamics of structural and chemical pathologies of vulnerable neurons.

Animals↗
PubMedDate not supplied

Spinal muscular atrophy--noninvasive ventilatory support in pediatrics.

The deterioration of the respiratory function in children suffering from degenerative neuromuscular disease is the main cause of the high mortality rate associated with these diseases. Noninvasive ventilation (NIV) has reduced the morbidity and mortality due to respiratory insufficiency in these children. However, the use of support ventilation in some cases of spinal muscular atrophy (SMA) is still controversial. A retrospective study of 22 patients suffering from SMA who were followed up in the Paediatric Hospital of Coimbra is presented: 7 of type I, 11 of type II, and 4 of type III. In 17 of these cases, non-invasive ventilation by mask was begun, and in 3 of them NIV was applied for prophylactic purposes. The 7 children with SMA type I began NIV when they were 13 months of age on average (3 months-3 years); 5 of them died, between 1 and 15 months after the beginning of the ventilation. Of the 11 children with SMA type II, 8 were submitted to NIV and one died 22 months later. Three of the children in this group began NIV in a prophylactic way, and in all of them a decrease in the thoracic deformity was observed. Of the 4 patients of type III, 2 of them were submitted to non-invasive ventilation. In all of the symptomatic cases, a decrease in the frequency and severity of respiratory infections was observed, after ventilation was started. The respiratory support with NIV may improve the quality of life of children suffering from SMA as well as prolong their life expectancies. In SMA type I, whose clinical manifestations are precocious and whose prognostic is very serious, the application of this support has been debated.

Adolescent↗
PubMed1981

[A new mutant in the mouse: peroneal muscular atrophy (author's transl)].

An anomaly of the hind limb has been found in the process of inbreeding of the CF#1 strain. The affected mouse showed a club foot at birth and unusual gait by a dropped foot in the adult. The growth of the affected mouse was slightly delayed in comparison with normal littermates, but reproductive performance was almost normal in both sexes. Anatomical and pathological studies revealed the atrophy of the peroneal muscle group and absence of the common peroneal nerves. The genetical studies showed that this anomaly was mainly controlled by a single autosomal recessive gene. The penetrance and expressivity of the gene was complete in the original or related strains, but incomplete in the other genetic backgrounds. This major gene has been named peroneal muscular atrophy (gene symbol: pma).

Animals↗
PubMed1981

Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis.

In three cases of chorea-acanthocytosis (acanthocytosis and neurological disease, or familial degeneration of the basal ganglia with acanthocytosis), biopsies of short peroneal muscles and sural nerves were studied histologically. The muscles showed groups of atrophic fibres with clumping of sarcolemmal nuclei in all cases. It was concluded that neurogenic muscular atrophy should be included as one of the main pathological findings in chorea-acanthocytosis. The sural nerves showed a small number of large myelinated fibres in two cases. This finding remains to be confirmed in other cases.

Acanthocytes↗
PubMed1998

Congenital unilateral speckled lentiginous blue nevi with asymmetric spinal muscular atrophy.

We describe a 30-year-old man presenting with congenital widespread unilateral hyperpigmented areas on the right side of the face and limbs that were studded with multiple blue nevi. There was nevus of Ota-like scleral involvement of the right eye. Histologic examination showed common blue nevi, one in association with lentigo. For this unusual type of dermal melanocytosis we propose the term, congenital unilateral speckled lentiginious blue nevi. In addition, the patient had monomelic spinal muscular atrophy of his right shoulder girdle and arm.

Adult↗
PubMed1999

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body.

The spliceosomal snRNAs U1, U2, U4, and U5 are synthesized in the nucleus, exported to the cytoplasm to assemble with Sm proteins, and reimported to the nucleus as ribonucleoprotein particles. Recently, two novel proteins involved in biogenesis of small nuclear ribonucleoproteins (snRNPs) were identified, the Spinal muscular atrophy disease gene product (SMN) and its associated protein SIP1. It was previously reported that in HeLa cells, SMN and SIP1 form discrete foci located next to Cajal (coiled) bodies, the so-called "gemini of coiled bodies" or "gems." An intriguing feature of gems is that they do not appear to contain snRNPs. Here we show that gems are present in a variable but small proportion of rapidly proliferating cells in culture. In the vast majority of cultured cells and in all primary neurons analyzed, SMN and SIP1 colocalize precisely with snRNPs in the Cajal body. The presence of SMN and SIP1 in Cajal bodies is confirmed by immunoelectron microscopy and by microinjection of antibodies that interfere with the integrity of the structure. The association of SMN with snRNPs and coilin persists during cell division, but at the end of mitosis there is a lag period between assembly of new Cajal bodies in the nucleus and detection of SMN in these structures, suggesting that SMN is targeted to preformed Cajal bodies. Finally, treatment of cells with leptomycin B (a drug that blocks export of U snRNAs to the cytoplasm and consequently import of new snRNPs into the nucleus) is shown to deplete snRNPs (but not SMN or SIP1) from the Cajal body. This suggests that snRNPs flow through the Cajal body during their biogenesis pathway.

Animals↗
PubMed1998

Molecular analysis of the SMN and NAIP genes in Saudi spinal muscular atrophy patients.

In this study we examined the deletion of the SMN and NAIP genes in 14 Saudi families (16 patients and 38 relatives of the patients, including parents and siblings) and six healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene and exon 5 of the NAIP gene were found in seven out of eight spinal muscular atrophy (SMA) type-I patients. In seven SMA type-II patients, exons 7 and 8 of telomeric SMN were deleted in six cases and exon 5 of NAIP was deleted in three cases. Three patients with SMA diagnosis did not show either of the above deletions. All control Saudi volunteers and all but two family members of the patients had both normal SMN and NAIP genes. Our results show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletions of the SMN and NAIP genes are more common in Saudi SMA type-I patients compared to patients of other ethnic groups.

Arabs↗
PubMed1993

Juvenile lower cervical spinal muscular atrophy in Taiwan: report of 27 Chinese cases.

Clinical observations as well as electromyographic studies were carried out on 27 Taiwanese Chinese patients deemed to be suffering from a rare, unique and self-limiting variant of lower motor neuron disease affecting the upper limbs with juvenile onset and a marked male preponderance. The results agree with previous descriptions of the disease except for the higher incidence of triceps affection. The term 'juvenile lower cervical spinal muscular atrophy', which describes the disease more accurately, is being proposed. The geographic relevance is discussed.

Adolescent↗
PubMed1977

Distal chronic spinal muscular atrophy involving the hands.

Six patients with a 10 to 30 year history of slowly progressive wasting and weakness of the small muscles of the hands have been studied. In all patients the abnormal neurological signs were largely confined to the hands and there was no clinical nor radiological evidence of peripheral nerve, nerve root or central nervous system disease. Detailed electrophysiological studies established that the muscle wasting was due to chronic partial denervation. Motor and sensory conduction studies were normal. These patients represent a benign form of chronic spinal muscular atrophy largely localised to the small muscles of the hand.

Adult↗
PubMed2002

Psychopathology and familial stress - comparison of boys with Fragile X syndrome and spinal muscular atrophy.

BACKGROUND: Chronic illness and mental retardation are both associated with an increased rate of behavioural problems in children and with considerable emotional strain in families. The aim of the study was to analyse and compare the specific effects of two exemplary conditions on familial stress and coping. METHODS: Forty-nine boys with Fragile X syndrome (FXS) were compared with 46 boys with Spinal Muscular Atrophy (SMA) and 32 male controls. Intelligence was measured with the RAVEN or K-ABC tests. Psychopathology was assessed with the CBCL questionnaire and a structured psychiatric interview (Kinder-DIPS), parental stress with the QRS, coping with the F-COPES and social support with the F-SOZU questionnaires. RESULTS: The mean age of the FXS boys was 8.6, of the SMA boys 12.7 and of the controls 11.2 years. The mean IQ was 47 for the FXS, 112 for the SMA and 103 for the control groups. According to the CBCL, 89.8% of the FXS boys, 21.7% of the SMA and 15.7% of the controls had a total score in the borderline or clinical range. The rates were 63.3%, 34.8% and 21.9% for internalising and 67.3%, 10.9% and 18.8% for externalising behaviour, respectively. 81.6% of the FXS and 10.9% of the SMA patients had a DSM-IV or ICD-10 psychiatric diagnosis. The most common were ADHD (FXS: 36) and Separation Anxiety Disorder (SMA: 4). In total, parental stress was significantly higher in the FXS than in the SMA families (and in both compared to controls). There were no major inter-group differences regarding social support and familial coping. CONCLUSIONS: Children with FXS are severely mentally retarded and have a high rate of mainly externalising disorders. Despite good coping abilities and social support, this is associated with high familial stress. The SMA boys, with an intelligence in the upper normal range, are no more deviant than their healthy controls. Parental stress is lower in the SMA families with good coping abilities. In conclusion, families with mentally retarded children are in even greater need of help than those of children with severe chronic illness/physical handicap.

Adaptation, Psychological↗
PubMed1998

The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3.

Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome. Subsequent divergent evolution of the genes within paralogous regions can lead to the formation of gene families. Here, we report the identification of a region on Chromosome (Chr) 6 at 6p21.3 that is paralogous with the Spinal Muscular Atrophy (SMA) gene region on Chr 5 at 5q13.1. Partial characterization of this region identified nine sequences all of which are highly homologous to DNA sequences of the SMA gene region at 5q13.1. These sequences include four beta-glucuronidase sequences, two retrotransposon sequences, a novel cDNA, a Sequence Tagged Site (STS), and one that is homologous to exon 9 of the Neuronal Apoptosis Inhibitor Protein (NAIP) gene. The 6p21.3 paralogous SMA region may contain genes that are related to those in the SMA region at 5q13.1; however, a direct association of this region with SMA is unlikely given that no linkage of SMA with Chr 6 has been reported.

Base Sequence↗
PubMed1994

Muscle biopsy in juvenile distal spinal muscular atrophy.

The myopathological changes in properly selected muscles can allow evaluation of the definite distribution of neuronogenic denervation which can probably not be found by clinical examination or EMG study of inadequate muscle sampling. We performed muscle biopsies in 13 Chinese patients with chronic juvenile monomelic motor neuron disease involving the distal part of the upper extremities. According to our findings and the literature review, the neurogenic changes selectively affected the muscles innervated by C7, 8 and T1 spinal nerves while sparing others. Consequently, the term 'juvenile lower cervical spinal muscular atrophy' is suggested.

Adolescent↗
PubMed1997

The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS.

Amyotrophic lateral sclerosis (ALS) is found in a familial form in around 5-10% of cases. Of these familial cases around 20% are associated with mutations of SOD-1. The genetic basis of the disease in the remaining familial cases, and genetic risk factors in sporadic cases, are unknown. Recently, the common forms of spinal muscular atrophy (SMA) have been associated with mutations of the SMN and NAIP genes on chromosome 5, in the region q11.2-13.3. Some patients with both familial and sporadic motor neuron disease show only lower motor neuron signs, in common with SMA patients, and families containing individuals with phenotypes of both childhood SMA and adult motor neuron disease have been reported. We therefore examined the SMA locus as a candidate for ALS, in 54 patients with sporadic motor neuron disease, and 10 single-generation familial patients (with no evidence of SOD-1 mutations), and in a single patient with Brown-Vialetto-Van Laere syndrome. No mutations of the SMN or NAIP genes were detected. The difficulties of classification of lower motor neuron presentations of motor neuron diseases are discussed. The demonstration that mutations diagnostic of SMA are not found in ALS patients helps distinguish these conditions.

Adult↗
PubMed2000

Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.

We haplotyped 13 Finnish, 10 Swedish, 12 Danish and 2 Norwegian SBMA (spinal and bulbar muscular atrophy, Kennedy disease) families with a total of 45 patients and 7 carriers for 17 microsatellite markers spanning a 25.2 cM region around the androgen receptor gene on chromosome Xq11-q12 in search of a genetic founder effect. In addition, the haplotypes of 50 Finnish, 20 Danish and 22 Swedish control males were examined. All the Scandinavian SBMA families shared the same 18 repeat allele for the intragenic GGC repeat, which was present in only 24% of the controls. Linkage disequilibrium was also seen for the closest microsatellite markers. In addition, extended haplotypes of the Finnish, Swedish and Danish SBMA families revealed country-specific common founder haplotypes, which over time became gradually shortened by recombinations. No common haplotype was found among the controls. The data suggest that the SBMA mutation was introduced into western Finland 20 generations ago. Haplotype analysis implies a common ancestor for the majority of Scandinavian SBMA patients.

Alleles↗