Disease relevance of Motor Neuron Disease

• Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis [1].
• To investigate whether spastin mutations are present in patients with primary lateral sclerosis and sporadic hereditary spastic paraparesis, we screened the spastin gene in 99 Dutch patients with an unexplained, apparently sporadic, adult-onset UMN syndrome [2].
• We searched for deletions of SMN1 and SMN2 in a group of 11 patients with sporadic adult-onset lower motor neuron disease (also referred to as "progressive muscular atrophy") and found an excess of patients carrying homozygous deletions of SMN2 exon 7 (36% versus 5% in the normal population) [3].
• Treatable lower motor neuron disease due to vitamin D deficiency and secondary hyperparathyroidism [4].
• Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: historical background for the first International Conference [5].

Psychiatry related information on Motor Neuron Disease

• Clinical features included those of typical ALS-D, primary lateral sclerosis, atypical ALS with frontotemporal atrophy and atypical Pick's disease without Pick's bodies [6].
• Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia [7].

High impact information on Motor Neuron Disease

• Intraneuronal deposition of calcium and aluminium in amyotropic lateral sclerosis of Guam [8].
• We analyzed ALS2, recently found mutated in consanguineous Arabic families presenting either an ALS2 phenotype or juvenile-onset primary lateral sclerosis (JPLS), as a candidate gene [9].
• DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex [10].
• Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease [11].
• Increased titers of antibodies to GM1 ganglioside in humans are associated with lower motor neuron disease and predominantly motor neuropathy with or without conduction block [12].

Chemical compound and disease context of Motor Neuron Disease

• In addition to its antiexcitotoxic action, the anti-amyotrophic lateral sclerosis (ALS) neuroprotectant riluzole protects against nonexcitotoxic oxidative neuronal injury [13].
• CONCLUSION: NAA/Cr values determined at single-voxel proton MR spectroscopy are more sensitive than are standard findings at MR imaging in the detection of upper motor neuron disease [14].
• One plausible hypothesis for selective neuronal death in sporadic amyotropic lateral sclerosis (ALS) is excitotoxicity mediated by alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptors, which are a subtype of ionotropic glutamate receptors [15].
• Monoclonal IgMs with anti-Gal(beta 1-3) GalNAc activity in lower motor neuron disease; identification of glycoprotein antigens in neural tissue and cross-reactivity with serum immunoglobulins [16].
• Intrathecal baclofen for spasticity in primary lateral sclerosis [17].

Biological context of Motor Neuron Disease

• We studied pattern-shift visual (PSVEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potentials in 38 unselected patients with motor system diseases (MSD) (28 sporadic, 10 familial) [18].
• Deficient RNA editing of GluR2 and neuronal death in amyotropic lateral sclerosis [15].

Anatomical context of Motor Neuron Disease

• Within the ALS group, patients with lower motor neuron signs only had lower NFL levels (360 +/- 237 ng/L) than those with signs of upper motor neuron disease (2,435 +/- 1,633 ng/L) (p < 0.05) [19].
• When detrusor hyperreflexia occurred in patients with obstruction, idiopathic detrusor hyperreflexia and upper motor neuron disease there was a reflex relaxation of the pelvic floor in 52 per cent of the cases [20].

Gene context of Motor Neuron Disease

• Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease [3].
• 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions [21].
• Immunocytochemical studies on synaptophysin in the anterior horn of lower motor neuron disease [22].
• Amyloid neuropathy simulating lower motor neuron disease [23].
• We studied a patient with an IgM M-protein and lower motor neuron disease to identify the antigens to which the M-protein bound [24].

Analytical, diagnostic and therapeutic context of Motor Neuron Disease

• Oral glucose tolerance testing was performed in three groups of wasted patients: myotonic dystrophy (11); amyotrophic lateral sclerosis (10); other lower motor neuron disease (four) [25].
• A double-blind placebo-controlled study of 3,4-diaminopyridine in amytrophic lateral sclerosis patients on a rehabilitation unit [26].
• We conclude that the differential diagnosis of unexplained bilateral optic neuropathy of juvenile onset, particularly when associated with upper and lower motor neuron disease, should include biotinidase deficiency [27].

References