Disease relevance of Spinal Muscular Atrophies of Childhood

• Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family [1].
• In myotonic dystrophy and Werdnig-Hoffmann disease, GPC/PCr values increased greatly [2].
• Although SAF are also commonly seen in patients with Kugelberg-Welander disease and amyotrophic lateral sclerosis, in FSHD they were mostly type 2C fibers which frequently exhibit alkaline phosphatase-positive activity [3].
• Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, tuberous sclerosis, Friedreich ataxia, mitochondrial encephalo-myopathies, Werdnig-Hoffmann disease, convulsive disorders, syncope, central nervous system infections, etc [4].
• The endothelial types in Werdnig-Hoffmann disease and central core disease were E0 and those in multicore disease and Fukuyama type congenital muscular dystrophy were E1 [5].

High impact information on Spinal Muscular Atrophies of Childhood

• SMN gene deletion in variant of infantile spinal muscular atrophy [6].
• We suggest that this form, which, interestingly, clinically resembles AR Kugelberg-Welander disease, should be classified as LGMD2G [7].
• The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease [8].
• SMA spans from severe Werdnig-Hoffmann disease (SMA 1) to relatively benign Kugelberg-Welander disease (SMA 3) [9].
• A 1-year-old infant with classic Werdnig-Hoffmann disease was found to excrete abnormally large amounts of dicarboxylic acids in both fed and fasting states, with especially notable increases in the longer-chain (C10 and C12) 3-hydroxydicarboxylic acids [10].

Chemical compound and disease context of Spinal Muscular Atrophies of Childhood

• Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients [11].
• Vitamin E deficiency in Werdnig-Hoffmann disease [12].
• Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study [13].
• OBJECTIVE: Classic infantile spinal muscular atrophy (SMA) is believed to be a purely motor disorder, affecting neurons of the spinal anterior horn and nuclei of the lower cranial nerves [14].

Biological context of Spinal Muscular Atrophies of Childhood

• DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy [15].
• Muscle biopsies from 5 cases of Werdnig-Hoffmann disease and 4 cases of ALS were investigated by histology and electronmicroscopy [16].
• Exon 13 of the neuronal apoptosis inhibitory protein gene was deleted in only one patient with type I spinal muscular atrophy [17].

Gene context of Spinal Muscular Atrophies of Childhood

• The small myofibers in infantile spinal muscular atrophy show increased vimentin and desmin in the subsarcolemmal region [18].
• Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene [19].
• The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy [20].
• Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease [21].
• The Wobbler mouse (wr) has been proposed as a model for human inherited motoneuron disease (infantile spinal muscular atrophy) [22].

Analytical, diagnostic and therapeutic context of Spinal Muscular Atrophies of Childhood

• Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs [23].
• We describe the anesthetic management for cesarean section and tubal ligation of a 23-year-old primipara with type II spinal muscular atrophy (benign Werdnig Hoffmann) [24].
• CONCLUSION: Direct DNA deletion analysis of the survival motor neuron gene and neuronal apoptosis inhibitory protein gene in affected families represents a highly reliable and fast method for prenatal diagnosis of Werdnig-Hoffmann disease [25].

References