β-Mannosidosis: Myelin and oligodendrocyte lesions in brain and spinal cord

Author(s):  
Kathryn L. Lovell ◽  
Margaret Z. Jones

Caprine β-mannosidosis, an autosomal recessive defect of glycoprotein catabolism, is associated with a deficiency of tissue and plasma -mannosidase and with tissue accumulation and urinary excretion of oligosaccharides, including the trisaccharide Man(β1-4)GlcNAc(βl-4)GlcNAc and the disaccharide Man(β1-4)GlcNAc. This genetic disorder is evident at birth, with severe neurological deficits including a marked intention tremor, pendular nystagmus, ataxia and inability to stand. Major pathological characteristics described in Nubian goats in Michigan and in Anglo-Nubian goats in New South Wales include widespread cytoplasmic vacuolation in the nervous system and viscera, axonal spheroids, and severe myelin paucity in the brain but not spinal cord or peripheral nerves. Light microscopic examination revealed marked regional variation in the severity of central nervous system myelin deficits, with some brain areas showing nearly complete absence of myelin and other regions characterized by the presence of 25-50% of the control number of myelin sheaths.

2003 ◽  
Vol 99 (2) ◽  
pp. 412-415 ◽  
Author(s):  
Kiran Musunuru ◽  
Virany Huynh Hillard ◽  
Raj Murali

✓ The simultaneous presence of cavernous malformations in the brain and spinal cord is a very rare finding and is typically associated with familial cavernous malformations. Although they are uncommon, various skin lesions can manifest in patients with familial cavernous malformations. The authors report on a 60-year-old man in whom more than 100 lesions consistent in appearance with cavernous malformations, including several intramedullary spinal cord lesions, were found throughout the neuraxis. This patient also displayed prominent café-au-lait skin lesions, but had no additional signs of neurofibromatosis or other neurocutaneous disorders. Analysis of his DNA revealed a novel mutation in the KRIT1/CCM1 gene, thereby confirming the diagnosis of familial cavernous malformation. The presence of these lesions in every major compartment of this patient's central nervous system underscores their indiscriminate nature and the need to screen throughout the neuraxis in patients in whom familial cavernous malformations are suspected. The findings in this case add to the growing list of skin lesions associated with genetically confirmed familial cavernous malformations. In patients presenting with seizures, focal neurological deficits, or hemorrhagic stroke, the presence of unusual skin lesions should prompt consideration of familial cavernous malformations, and appropriate screening should be performed.


Author(s):  
J. Eric Ahlskog

As a prelude to the treatment chapters that follow, we need to define and describe the types of problems and symptoms encountered in DLB and PDD. The clinical picture can be quite varied: problems encountered by one person may be quite different from those encountered by another person, and symptoms that are problematic in one individual may be minimal in another. In these disorders, the Lewy neurodegenerative process potentially affects certain nervous system regions but spares others. Affected areas include thinking and memory circuits, as well as movement (motor) function and the autonomic nervous system, which regulates primary functions such as bladder, bowel, and blood pressure control. Many other brain regions, by contrast, are spared or minimally involved, such as vision and sensation. The brain and spinal cord constitute the central nervous system. The interface between the brain and spinal cord is by way of the brain stem, as shown in Figure 4.1. Thought, memory, and reasoning are primarily organized in the thick layers of cortex overlying lower brain levels. Volitional movements, such as writing, throwing, or kicking, also emanate from the cortex and integrate with circuits just below, including those in the basal ganglia, shown in Figure 4.2. The basal ganglia includes the striatum, globus pallidus, subthalamic nucleus, and substantia nigra, as illustrated in Figure 4.2. Movement information is integrated and modulated in these basal ganglia nuclei and then transmitted down the brain stem to the spinal cord. At spinal cord levels the correct sequence of muscle activation that has been programmed is accomplished. Activated nerves from appropriate regions of the spinal cord relay the signals to the proper muscles. Sensory information from the periphery (limbs) travels in the opposite direction. How are these signals transmitted? Brain cells called neurons have long, wire-like extensions that interface with other neurons, effectively making up circuits that are slightly similar to computer circuits; this is illustrated in Figure 4.3. At the end of these wire-like extensions are tiny enlargements (terminals) that contain specific biological chemicals called neurotransmitters. Neurotransmitters are released when the electrical signal travels down that neuron to the end of that wire-like process.


BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jan Rahmig ◽  
Arne Grey ◽  
Marco Berning ◽  
Jochen Schaefer ◽  
Martin Lesser ◽  
...  

Abstract Background Hepatitis E infection affects over 20 million people worldwide. Reports of neurological manifestations are largely limited to the peripheral nervous system. We report a middle-aged genotype 3c male patient with acute hepatitis E virus (HEV) infection and severe neurological deficits with evidence of multiple disseminated inflammatory lesions of the central nervous system. Case presentation A 42-year-old male patient presented to our emergency department with musculoskeletal weakness, bladder and bowel retention, blurred vision and ascending hypoesthesia up to the level of T8. Serology showed elevated liver enzymes and positive IgM-titers of hepatitis E. Analysis of cerebrospinal fluid (CSF) showed mild pleocytosis and normal levels of glucose, lactate and protein. HEV-RNA-copies were detected in the CSF and stool. Within 3 days after admission the patient became paraplegic, had complete visual loss and absent pupillary reflexes. MRI showed inflammatory demyelination of the optic nerve sheaths, multiple subcortical brain regions and the spinal cord. Electrophysiology revealed axonal damage of the peroneal nerve on both sides with absent F-waves. Treatment was performed with methylprednisolone, two cycles of plasma exchange (PLEX), one cycle of intravenous immunoglobulins (IVIG) and ribavirin which was used off-label. Liver enzymes normalized after 1 week and serology was negative for HEV-RNA after 3 weeks. Follow-up MRI showed progressive demyelination and new leptomeningeal enhancement at the thoracic spine and cauda equina 4 weeks after admission. Four months later, after rehabilitation was completed, repeated MRI showed gliotic transformation of the spinal cord without signs of an active inflammation. Treatment with rituximab was initiated. The patient remained paraplegic and hypoesthesia had ascended up to T5. Nevertheless, he regained full vision. Conclusions Our case indicates a possible association of acute HEV infection with widespread disseminated central nervous system inflammation. Up to now, no specific drugs have been approved for the treatment of acute HEV infection. We treated our patient off-label with ribavirin and escalated immunomodulatory therapy considering clinical progression and the possibility of an autoimmune response targeting nerve cell structures. While response to treatment was rather limited in our case, detection of HEV in patients with acute neurological deficits might help optimize individual treatment strategies.


The intention of the author in the present paper, is, not to bring forwards any new facts, but to take a general review of the inferences deducible from the series of facts detailed by him in previous papers communicated to this Society. He divides the nerves into two classes, essentially differing in their functions. The first comprehends those nerves, which, proceeding directly from the brain and spinal cord to other parts, convey in the one case to those parts the influence of those organs only from which they originate, and thus excite to con­traction the muscles of voluntary motion ; and in the other case transmit to the sensorium impressions made on the parts to which they are distributed. The second class comprises what may betermed the Ganglionic nerves, or those which enter ganglions, pro­perly so called; that term being limited to such protuberances only as receive branches of nerves proceeding from the brain and spiral cord. These nerves are distributed more especially to the vital or­ gans, as the thoracic and abdominal viscera, and to the muscles sub­servient to their functions. The nerves belonging to this class also convey impressions to the sensorium, and occasionally excite the muscles of involuntary motion, which, in common with all muscles, possess an inherent power of contractility dependent solely on their own mechanism, and which in ordinary cases are excited by stimuli peculiar to themselves. But the most important function of the gan­glionic nerves, is that of supporting the processes of secretion and assimilation, which require for their performance the combined influ­ence of the whole brain and spinal cord. Viewed as a whole, the system of ganglionic nerves, therefore, constitutes, in the strictest sense, a vital organ. Thus the sensorium, though connected by means of the cerebral and spinal nerves only partially with the organs of sense and voluntary motion, is, by means of the ganglionic nerves, connected generally with all the functions of the animal body. Hence affections of the stomach and other vital organs extend their influence over every part of the frame; while those of a muscle of voluntary motion, or even of an organ of sense, although possessing greater sensibility, are confined to the injured part. From a due consideration of the phenomena of the nervous system, it would appear that they imply the operation of more than one prin­ciple of action. The sensorial power is wholly distinct from the ner­vous power; the former residing chiefly in the brain, while the latter belongs equally to the spinal cord and brain, and may be exercised independently of the sensorial power. In like manner, the muscular power resides in the muscles, and may be called into action by various irritations independently of the nervous power, though fre­quently excited by the action of that power. The muscles of volun­tary motion are subjected to the sensorial power through the inter­vention of the nervous system; and those of involuntary motion are also, under certain circumstances, capable of being excited through the nerves by the sensorial power, particularly when under the influ­ence of the passions. The same observation applies also to other actions which properly belong to the nervous power, such as the evolution of caloric from the blood, and the various processes of se­cretion and of assimilation. That the nervous power is in these instances merely the agent of other powers, and is independent of the peculiar organization of the nerves, is proved by the same effects being produced by galvanism, transmitted through conductors diffe­rent from the nerves. The successive subordination of these several powers is shown during death, when the sensorial functions are the first to cease, and the animal no longer feels or wills, but yet the nervous power still continues to exist, as is proved by the nerves be­ing capable, when stimulated, of exciting contractions in the muscles, both of voluntary and of involuntary motion,of producing the evolution of caloric and of renewing the processes of secretion. In like manner the power of contraction, inherent in the muscular fibre, survives the destniction of both the sensorial and nervous powers, having an existence independent of either, although in the entire state of the functions they are subjected to the entire influence of both.


Neurosurgery ◽  
2007 ◽  
Vol 61 (6) ◽  
pp. E1336-E1337 ◽  
Author(s):  
Daina Kashiwazaki ◽  
Kazutoshi Hida ◽  
Shunsuke Yano ◽  
Toshitaka Seki ◽  
Yoshinobu Iwasaki

Abstract OBJECTIVE Hemangiopericytomas, vascular tumors arising in soft tissue, are relatively rare in the central nervous system; they comprise less than 1% of all hemangiopericytomas. Central nervous system hemangiopericytomas occur primarily in the epidural space of the brain and spinal cord. There are no previous reports of subpial, extramedullary growing central nervous system hemangiopericytomas. CLINICAL PRESENTATION We document the first case of a subpial hemangiopericytoma with extramedullary growth in the thoracic spine. The patient was a 31-year-old man who developed progressively worsening left lower limb numbness that was followed by gait disturbance over the course of 4 months. INTERVENTION Magnetic resonance imaging revealed an intradural tumor at the T4–T6 level of the thoracic spine. Because the patient's symptoms progressed, he underwent resection of the tumor, which had arisen in the spinal cord subpially without attachment to the dura mater. CONCLUSION The pathological diagnosis was hemangiopericytoma. Differential diagnoses include hemangioblastoma, meningioma, schwannoma, and solitary fibrous tumor, the clinical course and prognosis of which are different from hemangiopericytoma. Our experience indicates that hemangiopericytomas can occur as intradural tumors arising from the subpial portion.


1972 ◽  
Vol 37 (5) ◽  
pp. 580-590 ◽  
Author(s):  
Enrica Grossi-Paoletti ◽  
Pietro Paoletti ◽  
Stefano Pezzotta ◽  
Davide Schiffer ◽  
Armando Fabiani

✓ Tumors of the nervous system grew in rats treated at birth with ethylnitrosourea through intracerebral or subcutaneous routes and in fetal rats treated through the mother. In 80% to 85% of the rats, single and multiple tumors developed in the brain and spinal cord regardless of the route of administration. Gasserian neurinomas, oligodendrogliomas, and oligogendroglial foci were the most frequent neoplasms. General morphological aspects and frequency of tumor localizations in relation to drug administration route are discussed. Thymidine incorporation into DNA, and RNA/DNA ratio, were evaluated in order to estimate tumor proliferation rate and growth. Desmosterol, a characteristic sterol of brain tumors, was detected in all the tumors. Regions of the brain and spinal cord of treated rats showed the presence of microscopic pretumoral areas (oligodendroglial foci) which incorporated thymidine into DNA in contrast to the brains of control rats.


2018 ◽  
Vol 18 (1) ◽  
pp. 115-140
Author(s):  
Fu`ad Arif Noor

Neuroscience, are simply the science devoted to learning Neoron(nerve cells). Nerve cells make up the nervous system, both thecentral nervous system (brain and spinal cord) and the peripheralnerves (31 pairs and 12 pairs of spinal nerve head). A nerve cellitself is not the smallest unit away from the nerve cell, the smallestunit of nerve cells (neurons) are the synapses ie the meeting point oftwo nerve cells move and pass the information (neurotransmitters).At the level of molecular biology, the smallest unit is like genes(genetic studies). Generally, the neuroscientist focused on nervecells in the brain. In the Qur'an sense has a glorious position. It wasevident the word "reasonable" in the Qur'an is mentioned insignificant amounts. The word "reasonable" in the Qur'an is called49 times. All in the form mudhari deed '(a verb that indicates thecurrent and future), but one that is shaped madhi verb (a verb thatindicates the past).Although the Qur'an does not mention the "sense" in its form as' acertain part of the human self '(سفنلا ىف لاقتسم ارهوج), which becamethe source of the birth of any acts rationally, but the Qur'anmentions "reasonable" in its meaning as' activities reasonable use'(لقعتلا ةيلمع), the appeal that invites use of reason as the path to truth(لقعتلا), thinking (ركفتلا), watching (رظنلا), to understand and learn(هقفتلا), take the wisdom and lessons from each incident (رابتعلاا) andetc.


2021 ◽  
Vol 5 (1) ◽  
pp. 01-04
Author(s):  
Anil Kumar Sakalecha ◽  
Parameshwar Keerthi B H ◽  
Varun S ◽  
Shivaprasad G Savagave

Tuberculosis is an important public problem worldwide from 19th century. Manifestations of tuberculosis widely classified as pulmonary and extra pulmonary manifestations. Central nervous system (CNS) tuberculosis is a serious condition where patients most often present with seizure. Tuberculoma is one of the CNS manifestations of tuberculosis. The imaging feature of tuberculoma is ring enhancing lesions. Tuberculoma should be differentiated from other diseases with ring enhancing lesions like neurocysticercosis, coccidiomycosis, toxoplasmosis and malignancies.


2021 ◽  
Vol 10 (11) ◽  
pp. e270101119579
Author(s):  
Cássio Marques Perlin ◽  
Lanusa Alquino Colombo ◽  
Anderson Dillmann Groto ◽  
Bruno Gleizer da Silva Rigon

Superficial Siderosis (SS) of Central Nervous System is a rare disease characterized by the deposit of hemosiderin in the brain and spinal cord. Clinically, it is characterized by progressive sensorineural ataxia and deafness associated with injury of superior motor neuron. The diagnosis is made by magnetic resonance imaging (MRI) of the encephalon and spinal cord. The objective of the study is to report the case of a patient with characteristic elements of the syndrome, accompanied in a private medical clinic.


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