1/84. 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.- - - - - - - - - - ranking = 1keywords = anterior horn, neuron, lateral sclerosis, horn, sclerosis, lateral, upper (Clic here for more details about this article) |
2/84. Complex repetitive discharges: cause or effect of neurogenic muscle hypertrophy?We report a patient with adult-onset spinal muscular atrophy (SMA) of the scapulohumeral type with neurogenic muscle hypertrophy (NMH) in markedly weakened biceps muscles in association with continuous complex repetitive discharges (CRDs). This is an apparently unique case due to the bilaterality of the NMH associated with CRDs as well as the well-circumscribed symmetric upper extremity distribution of the hypertrophy. The possible mechanisms of NMH in association with spontaneous motor activity are discussed.- - - - - - - - - - ranking = 8.7041853106019E-5keywords = lateral, upper (Clic here for more details about this article) |
3/84. Somatosensory evoked potentials in X-linked recessive bulbospinal neuronopathy: a case demonstration.Clinicopathological findings in X-linked recessive bulbospinal neuronopathy were characterized by loss of myelinated fibers in the fasciculus gracilis and depletion of neurons in the ventral horn throughout the same segments. Clinical profile of this rare motor neuron disease include sign and symptom of lower motor neuron involving bulbar and spinal level with minimal or no sensory deficit. Previous electrodiagnostic findings consist of electrophysiological evidence of anterior horn cell disease and decreased or absent sensory action potentials in the peripheral nerve. The role of somatosensory evoked potential which can uncover the involvement of posterior column has never been probed. We report a 22-year-old man who had a clinical syndrome of X-linked bulbospinal neuronopathy. The peripheral electrodiagnostic studies supported the evidence of prolonged anterior horn cell disease and decreased sensory response. The median SEPs revealed delayed N11-N13 and N13-N20 interpeak latencies representing demyelination in fasciculus gracilis of upper cervical cord. Therefore, the median SEPs, an uninvasive procedure, can be used as a supportive method to identify sensory neuronopathy with posterior column lesion in this syndrome, especially when the patient has no obvious sensory and endocrine symptom.- - - - - - - - - - ranking = 20.725015243767keywords = motor neuron disease, neuron disease, motor neuron, anterior horn cell, anterior horn, horn cell, neuron, horn, upper (Clic here for more details about this article) |
4/84. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.- - - - - - - - - - ranking = 0.72319357183522keywords = neuron (Clic here for more details about this article) |
5/84. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.- - - - - - - - - - ranking = 1.3824799534879keywords = anterior horn cell, anterior horn, horn cell, horn (Clic here for more details about this article) |
6/84. Anterior horn cell disease and olivopontocerebellar hypoplasia.To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.- - - - - - - - - - ranking = 2.3396397813107keywords = anterior horn cell, anterior horn, horn cell, horn (Clic here for more details about this article) |
7/84. Monozygotic twins with fetal akinesia: the importance of clinicopathological work-up in predicting risks of recurrence.Fetal Akinesia Deformation Sequence (FADS) or Pena-Shokeir Sequence is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies: multiple contractures, pulmonary hypoplasia, craniofacial anomalies, polyhydramnios, intrauterine growth retardation, and short umbilical cord. Three sets of monozygotic twins, and their affected sibs, are presented. Detailed pathological work-up established that the two pairs of twins concordant for FADS were of myogenic etiology while the set discordant was due to anoxic-ischemic damage. In the myogenic cases, the rate of recurrence was high, in agreement with the findings from the study on arthrogryposis multiplex congenita of myogenic origin. In light of these findings, in sporadic cases of myogenic FADS, counselling, a recurrence risk of 25% seems prudent. In neurogenic cases associated with primary cerebral malformations, there are cases cited in the literature that are clearly recessive as indicated by affected sibs, but many reported are isolated occurrences. Therefore, in this scenario, giving a recurrent risk of 10-15% appears appropriate. In light of autosomal recessive spinal muscular atrophy and reports of familial FADS due to primary anterior horn cell loss, counselling a 25% risk seems prudent. In cases due to anoxic-ischemic damage, offering a low recurrent risk of 1% appears justified.- - - - - - - - - - ranking = 1.3824799534879keywords = anterior horn cell, anterior horn, horn cell, horn (Clic here for more details about this article) |
8/84. Monomelic amyotrophy with late progression.Monomelic amyotrophy is a sporadic juvenile-onset disease that presents with gradual onset of weakness and atrophy in the hand muscles unilaterally. Generally, this disease is considered a 'benign' and non-progressive motor neuron disease, which stabilizes within five years of onset. We discuss a case that illustrates that monomelic amyotrophy may rarely exhibit late clinical progression to the lower extremities after a prolonged period of disease stability.- - - - - - - - - - ranking = 13.521985368787keywords = motor neuron disease, neuron disease, motor neuron, neuron, lateral (Clic here for more details about this article) |
9/84. Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case.- - - - - - - - - - ranking = 13.114686682976keywords = motor neuron, neuron (Clic here for more details about this article) |
10/84. amyotrophic lateral sclerosis associated with insomnia and the aggravation of sleep-disordered breathing.A case of amyotrophic lateral sclerosis (ALS) diagnosed by sleep-disordered breathing is described. The patient's chief complaints were insomnia and nocturnal dyspnea after taking a hypnotic drug. On examination, he showed restrictive ventilatory impairment, alveolar hypoventilation and hypoxia. Polysomnographic examination revealed marked hypoxia during REM sleep periods, decreased duration of REM sleep periods, and increased sleep disruption. amyotrophic lateral sclerosis was diagnosed by the neurological finding of paraspinal muscle weakness and neurogenic changes revealed by needle electromyography and muscle biopsy. The daytime and nocturnal respiratory insufficiency improved after nasal bilevel positive airway pressure therapy. amyotrophic lateral sclerosis should be suspected as a cause of insomnia and nocturnal dyspnea.- - - - - - - - - - ranking = 0.80284756493841keywords = lateral sclerosis, sclerosis, lateral (Clic here for more details about this article) |
| | Next -> |