Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.
Anterior Horn Cells ; Atrial Fibrillation ; Atrioventricular Block ; Blood Pressure ; Brain Stem ; Child ; Female ; Heart Rate ; Humans ; Muscle Hypotonia ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neuromuscular Diseases ; Noninvasive Ventilation ; Paralysis ; Primary Dysautonomias ; Respiratory Insufficiency ; Respiratory Rate ; Spinal Cord ; Survivors

Hirayama disease, juvenile muscular atrophy of the distal upper limb, is a rare disease predominantly affecting the anterior horn cells of the cervical spinal cord in young men. This cervical myelopathy is associated with neck flexion. It should be suspected in young male patients with a chronic history of weakness and atrophy involving the upper extremities followed by clinical stability in few years. Herein, we report 2 cases of Hirayama disease on emphasis of diagnostic approach and describe the pathognomonic findings at flexion magnetic resonance imaging.
Anterior Horn Cells ; Atrophy ; Cervical Cord ; Humans ; Magnetic Resonance Imaging ; Male ; Motor Neuron Disease* ; Motor Neurons* ; Neck ; Rare Diseases ; Spinal Cord Diseases ; Spinal Muscular Atrophies of Childhood ; Upper Extremity

Japanese encephalitis (JE) shows characteristic brain lesions, including bilateral thalamus, midbrain, internal capsule, basal ganglia, and occasionally involves an anterior horn cell. We encountered a case of a 44-year-old man who initially presented with encephalitis, which was finally diagnosed as Japanese encephalomyelitis with syringomyelia. The patient showed severe motor weakness followed by delayed recovery of functional motor activities. Cervical magnetic resonance imaging showed syrinx formation at the C5 level suggesting myelitis, and abnormal electromyographic findings were noted. Clinicians should consider the possibility that the spinal cord may be involved; an example would be syringomyelia due to myelitis in a case of JE presenting with severe and prolonged motor weakness.
Adult ; Anterior Horn Cells ; Asian Continental Ancestry Group* ; Basal Ganglia ; Brain ; Encephalitis ; Encephalitis, Japanese* ; Encephalomyelitis ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Mesencephalon ; Motor Activity ; Myelitis ; Spinal Cord ; Syringomyelia* ; Thalamus

The development of hyperexcitability in amyotrophic lateral sclerosis (ALS) is a well-known phenomenon. Despite controversy as to the underlying mechanisms, cortical hyperexcitability appears to be closely related to the interplay between excitatory corticomotoneurons and inhibitory interneurons. Hyperexcitability is not a static phenomenon but rather shows a pattern of progression in a spatiotemporal aspect. Cortical hyperexcitability may serve as a trigger to the development of anterior horn cell degeneration through a 'dying forward' process. Hyperexcitability appears to develop during the early disease stages and gradually disappears in the advanced stages of the disease, linked to the destruction of corticomotorneuronal pathways. As such, a more precise interpretation of these unique processes may provide new insight regarding the pathophysiology of ALS and its clinical features. Recently developed technologies such as threshold tracking transcranial magnetic stimulation and automated nerve excitability tests have provided some clues about underlying pathophysiological processes linked to hyperexcitability. Additionally, these novel techniques have enabled clinicians to use the specific finding of hyperexcitability as a useful diagnostic biomarker, enabling clarification of various ALS-mimic syndromes, and the prediction of disease development in pre-symptomatic carriers of familial ALS. In terms of nerve excitability tests for peripheral nerves, an increase in persistent Na+ conductances has been identified as a major determinant of peripheral hyperexcitability in ALS, inversely correlated with the survival in ALS. As such, the present Review will focus primarily on the puzzling theory of hyperexcitability in ALS and summarize clinical and pathophysiological implications for current and future ALS research.
Amyotrophic Lateral Sclerosis ; Anterior Horn Cells ; Forecasting ; gamma-Aminobutyric Acid ; Interneurons ; Peripheral Nerves ; Track and Field ; Transcranial Magnetic Stimulation

OBJECTIVE: The purpose of this study is to evaluate neuroprotective effect of sacral neuromodulation in rat spinal cord injury (SCI) model in the histological and functional aspects. METHODS: Twenty-one female Sprague Dawley rats were randomly divided into 3 groups : the normal control group (CTL, n=7), the SCI with sham stimulation group (SCI, n=7), and the SCI with electrical stimulation (SCI+ES, n=7). Spinal cord was injured by dropping an impactor from 25 mm height. Sacral nerve electrical stimulation was performed by the following protocol : pulse duration, 0.1 ms; frequency, 20 Hz; stimulation time, 30 minutes; and stimulation duration, 4 weeks. Both locomotor function and histological examination were evaluated as scheduled. RESULTS: The number of anterior horn cell was 12.3+/-5.7 cells/high power field (HPF) in the CTL group, 7.8+/-4.9 cells/HPF in the SCI group, and 6.9+/-5.5 cells/HPF in the SCI+ES group, respectively. Both the SCI and the SCI+ES groups showed severe loss of anterior horn cells and myelin fibers compared with the CTL group. Cavitation and demyelinization of the nerve fibers has no significant difference between the SCI group and the SCI+ES group. Cavitation of dorsal column was more evident in only two rats of SCI group than the SCI+ES group. The locomotor function of all rats improved over time but there was no significant difference at any point in time between the SCI and the SCI+ES group. CONCLUSION: In a rat thoracic spinal cord contusion model, we observed that sacral neuromodulation did not prevent SCI-induced myelin loss and apoptosis.
Animals ; Anterior Horn Cells ; Apoptosis ; Electric Stimulation ; Female ; Humans ; Myelin Sheath ; Nerve Fibers ; Neuroprotective Agents ; Rats ; Rats, Sprague-Dawley ; Salicylamides ; Spinal Cord ; Spinal Cord Injuries

We analyzed aquaporin (AQP) expression in the rat spinal cord following an electrical shock (ES) to elucidate the roles of AQP in spinal cord injury (SCI) induced by an electrical burn. In control animals, AQP1 immunoreactivity was observed in the small diameter dorsal horn fibers of laminae I and II and in astrocytes and neurons in the spinal cord. Both AQP4 and AQP9 immunoreactivity were detected in astrocytes. One week after the ES, AQP1 immunoreactivity in dorsal horn fibers was downregulated to 83, 61, and 33% of control levels following a 1-, 4-, or 6-second ES, respectively. However, AQP1 immunoreactivity in ventral horn neurons increased to 1.3-, 1.5-, and 2.4-fold of control levels following a 1-, 4-, or 6-second ES, respectively. AQP4 immunoreactivity was upregulated after an ES in laminae I and II astrocytes in a stimulus-intensity independent manner. Unlike AQP1 and AQP4, AQP9 immunoreactivity was unaffected by the ES. These findings indicate that altered AQP immunoreactivity may be involved in SCI following an ES.
Animals ; Anterior Horn Cells ; Aquaporins ; Astrocytes ; Burns ; Horns ; Neurons ; Rats ; Shock ; Spinal Cord ; Spinal Cord Injuries

OBJECTIVETo investigate the effect of endogenous brain derived neurotrophic factor (BDNF) on GAP-43 expression in the anterior horn of the spinal cord in rats following sciatic nerve injury.

METHODSBDNF antibody was injected intraperitoneally in rats with crushing injury of the sciatic nerve, and the control rats received normal saline only after sciatic nerve injury. At 7 and 14 days after the injection, the expression of GAP-43 in the anterior horn of the corresponding segments of the spinal cord was detected by Western blot and RT-PCR.

RESULTSThe expressions of GAP-43 protein and mRNA in the anterior horn of the spinal cord were significantly down-regulated in rats with BDNF antibody injection as compared with those in the control group (P<0.01).

CONCLUSIONEndogenous BDNF may regulate the expression of GAP-43 in the spinal cord anterior horn after sciatic nerve injury in rats.

Animals ; Anterior Horn Cells ; metabolism ; Brain-Derived Neurotrophic Factor ; metabolism ; physiology ; Down-Regulation ; GAP-43 Protein ; genetics ; metabolism ; Male ; RNA, Messenger ; genetics ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Sciatic Nerve ; injuries ; Spinal Cord ; metabolism

OBJECTIVETo trace the segmental distribution of somatic sensory neurons of the skin and dorsal nerve in the rabbitś penis.

METHODSThe experiment was performed on 8 adult male rabbits with the nerve tracing method of retrograde axonal transport of horseradish peroxidase (HRP), which was injected into the dermis around the penis and the dorsal nerve of the penis. The rabbits were sacrificed five days later to harvest the spinal cord segments and the dorsal root ganglia of lumbosacral segments for histological study.

RESULTSThe HRP tracing showed that a number of labeled HRP positive neurons appeared in spinal ganglia (S2 - S4) in all the rabbits, and distributed segmentally. The counts of the positive neurons different segments were: S2 (215.0 +/- 10.2) , S3 (242.2 +/- 8.3) and S4 (109.7 +/- 8.4) respectively, with statistically significant difference between the two groups.

CONCLUSIONThe rabbit's sensory nerve fibers in both the skin and the dorsal nerve of the penis are rooted in the S2-S4 segments of spinal ganglia, which distribute regularly.

Animals ; Anterior Horn Cells ; anatomy & histology ; Biomarkers ; Male ; Neurons, Afferent ; Neurons, Efferent ; Penis ; innervation ; Rabbits ; Random Allocation ; Skin ; innervation

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb gir-dle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases.
Anterior Horn Cells ; Atrophy ; Biopsy ; Denervation ; Diagnosis, Differential ; Extremities ; Gene Deletion ; Humans ; Motor Neuron Disease ; Motor Neurons ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal* ; Muscular Diseases ; Muscular Dystrophies ; Neuronal Apoptosis-Inhibitory Protein ; Survivors

Segmental zoster paresis is a focal, asymmetric limb weakness caused by a herpes zoster infection. It is a rare complication of herpes zoster and the exact pathogenesis is uncertain. However, the most likely cause is the direct spread of the virus from the sensory ganglia to the anterior horn cells or anterior spinal nerve roots. We experienced two patients with segmental zoster paresis who showed both anterior and posterior root involvement on a gadolinium-enhanced MRI, supporting this hypothesis.
Anterior Horn Cells ; Extremities ; Ganglia, Sensory ; Herpes Zoster* ; Humans ; Magnetic Resonance Imaging* ; Neuroimaging ; Paresis* ; Spinal Nerve Roots* ; Spinal Nerves*