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PubMed1997

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.

The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes, from our laboratory and recent reports, for the survival motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes. Bayesian analyses were used to generate probabilities for SMA when deletions are present or absent in SMN. We found that when the SMN(T) exon 7 is deleted, the probability of SMA can reach greater than 98% in some populations, and when SMN(T) is present, the probability of SMA is approximately 17 times less than the prior population risk. Deletion of NAIP exon 5, as well as SMN(T) exon 7, is associated with a 5-fold increased risk of type I SMA. Case studies are used to illustrate differing disease risks for pre- and postnatal testing, depending on the presence of information about clinical status or molecular results. These analyses demonstrate that deletion screening of candidate genes can be a powerful tool in the diagnosis of SMA.

Cyclic AMP Response Element-Binding Protein↗
PubMed1997

Spinal muscular atrophy--clinical and genetic correlations.

A clinical and molecular genetic study of nearly 500 patients with proximal spinal muscular atrophy (SMA) was undertaken. On the basis of defined achieved milestones, survival probabilities in type I (never able to sit), type II (able to sit but not to walk) and the probability of being ambulatory in type III (achieved ability to walk) SMA for a total of 445 patients with SMA are given. Specific deletions of the survival motor neuron (SMN) gene were found in 96% type I, 94% type II and 82% type III in a total of 191 patients, while four SMA type IV patients with an age of onset beyond 30 years were not deleted. The SMN gene obviously plays an important role in the pathogenesis of SMA but there is evidence that the SMN gene is not the SMA gene itself. The demonstration of SMN deletions in healthy siblings of affected persons, the high intrafamilial similarity of the clinical course on the background of a broad clinical spectrum of proximal SMA and the demonstration of different mutations causing different clinical manifestations in single pedigrees indicate that additional genetic factors might be relevant. Linkage studies, as well as the analysis of the SMN gene, recognised that SMA variants (with severe arthogryposis or cerebellar or diaphragmatic involvement) are not linked to chromosome 5q markers.

Chromosome Aberrations↗
PubMed2005

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report.

X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND), who presented acute and reversible left vocal fold (dysphonia) and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed) and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP) abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34). Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.

Aged↗
PubMed1994

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.

The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2-3 Mb in the region q12-q13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts of the SMA region as defined by reference markers. A cosmid library was constructed from one RH. Thirteen clones were isolated and five of these were mapped within the SMA region. Both RH mapping and fluorescence in situ hybridization analysis showed that two clones map in the region between loci D5S125 and D5S351. One of the cosmids contains expressed sequences. Polymorphic dinucleotide repeats were identified in both clones and used for segregation analysis of key recombinant SMA families. One recombination between the SMA locus and the new marker 9Ic (D5S685) indicates that 9Ic is probably the closest distal marker. The absence of recombination between the SMA locus and marker Fc (D5S684) suggests that Fc is located close to the disease gene. These new loci should refine linkage analysis in SMA family studies and may facilitate the isolation of the disease gene.

Animals↗
PubMed2001

Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy.

BACKGROUND AND PURPOSE: The EK scale comprises ten categories (EK 1-10), each contributing to an overall picture of function in the non-ambulatory stage of Duchenne muscular dystrophy (DMD). The purpose of the present study was to investigate content and construct validity of the EK scale as a tool to discriminate between levels of functional ability in individuals with DMD or spinal muscular atrophy (SMA) who were non-ambulatory. METHOD: Data from a sample of 56 subjects with DMD and 38 with SMA, who were non-ambulatory, were obtained from four separate studies. The relationship of functional ability by use of the EK scale and (1) muscle strength, (2) contractures, (3) forced vital capacity and (4) years of wheelchair dependency were assessed. All items of the EK scale were used except the one representing severe hypoventilation. RESULTS: Regression analyses showed that the EK sum was the most significant explanatory variable (p < 0.05) of all variables measured to explain muscle strength in both DMD and SMA subjects. The individual categories of EK (1-10) all contributed as significant explanatory variables (p < 0.05) to the other variables measured. CONCLUSIONS: The categories and items of the EK scale were relevant and valid as means of discriminating between levels of functional performance in the population studied which was evidence of content and construct validity.

Activities of Daily Living↗
PubMed1977

[Brothers affected by the Charcot-Marie-Tooth peroneal muscular atrophy with a positive variant of the anticipation phenomenon].

Considering the genetical peculiarity of Charcot-Marie-Tooth's muscular atrophy, a family with three affected brothers was investigated, in which beginning date was discovered to be progressively antedated. Afterwards, this possible variant of anticipation is discussed, because such condition is quite ununsual, not only in this disease, but in Human Genetics, in a general sense.

Adult↗
PubMed2005

Respiratory management of the infant with type 1 spinal muscular atrophy.

A recent paper has highlighted the differences in the respiratory management offered to infants with type 1 spinal muscular atrophy (SMA-1). Current views appear polarised between those who would offer nothing, to those who would proceed as far even as tracheostomy and long term invasive ventilation for these infants. Here we offer a personal view, as a possible template for managing a vexed and emotional problem. The complex non-respiratory aspects of the holistic care of these infants will not be discussed.

Humans↗
PubMed1976

[On the vocational prognoses of patients with peroneal muscular atrophy (author's transl)].

Examined were 43 patients and 27 relatives all suffering from a hypertrophic type of peroneal muscular atrophy. Owing to foot deformities and a slowing of the nerve conduction velocity a diagnosis was already possible in their childhoods in the majority of cases. Although, after the 20th year of age, the pareses of the legs progress only slowly, considerable pareses of the small hand muscles can still develop in adults. With adequate counselling, rehabilitation measures should become necessary only in rare cases, or, if a kypho-scoliosis has already developed in childhood (10% of our cases).

Adolescent↗
PubMed1995

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

We report the isolation and characterization of novel expressed sequences from the spinal muscular atrophy (SMA) region on human chromosome 5q13. Based on the sequence homology studies these cDNAs were grouped in four classes, one of which shows extensive homologies with the beta-glucuronidase (BG) gene, differing in exon arrangement. The other cDNAs do not show any strong homology with known DNA sequences.

Base Sequence↗
PubMed2002

Spinal muscular atrophy with congenital fractures: postmortem analysis.

We present a male infant with congenital fractures and features typical of spinal muscular atrophy. Mid-shaft fractures of the left humerus and both femurs occurred in utero. The patient died at 8 months of age following recurrent respiratory tract infections. His peripheral electrophysiologic studies were consistent with anterior horn cell disease. Molecular genetic studies were negative for the SMN gene. At autopsy, extensive anterior horn cell loss was present. There was extensive disease of skeletal muscle with relative sparing of the diaphragm. This patient represents a further case of this rare and fatal disease.

Cyclic AMP Response Element-Binding Protein↗
PubMed1983

X-linked adult form of spinal muscular atrophy.

Neurological and endocrinological studies were carried out in 8 of 12 male patients with X-linked spinal muscular atrophy. In six investigated cases, gynaecomastia was discovered. First muscle symptoms started between 21 and 44 years of age, at which time the patients observed disturbances in their sexual life. In three cases decreased fertility and in two cases sterility was reported. Diagnostic testicular biopsy showed pronounced involutional changes of the Leydig cells. The plasma testosterone level was decreased, while the levels of luteinizing hormone and prolactine were normal, and the follicle stimulating hormone was at a high normal level. The dexamethasone/human chorionic gonadotrophin test revealed a pronounced decrease in the functional reserve of the Leydig cells. It is suggested that all these anomalies are connected with an increased ratio of oestrogen to androgen level.

Adult↗
PubMed1999

Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.

We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.

Amyotrophic Lateral Sclerosis↗