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Diseases of the Nervous System
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
The signs of disorder in neurological functions also show variations according to the anatomic level of the nervous system involved. The organization of the basic structural unit, the neuron, and the basic functional unit, the reflex, both become increasingly complex from the peripheral nerve to the spinal cord up the brainstem, diencephalon, and, finally, to the cerebral hemispheres. The consequence of a structural damage or failure of a biochemical reaction is fairly uniform and can be predicted at low anatomic levels. However, as increasing numbers of structural systems, reflexes, and biochemical processes are involved, the result of a lesion at these highest levels shows a great degree of variation and is less predictable.240,298 Many special conditions are known to be related to neurological diseases such as Leigh disease.348,480 Creutzfeld-Jakob disease,571,581 Alzheimer disease,77,161,260,374,461,469,476,502,554,566 Salla disease,27,490 Klinefelter’s syndrome,223,434 Parkinson’s syndrome,89,166,222,622 Wernicke-Korsakoff psychosis,394,395,585 Huntington syndrome,66 Reye syndrome,357 and Hartnup disease.556
Statutory regulation of PGD in the UK
Published in Sheila A.M. McLean, Sarah Elliston, Regulating Pre-Implantation Genetic Diagnosis, 2012
This example might suggest that where there are different versions of the same disease, it is each individual variation that should be licensed. But if this were the general rule, it would lead to a different sort of problem in other cases. For example, there are a large number of different gene mutations, each with their own OMIM number, which lead to Leigh’s disease, a fatal and untreatable childhood disorder of the brain and nervous system. Children usually develop Leigh’s disease before the age of two and death is likely within a year of diagnosis. Regardless of which gene mutation is involved, however, the phenotype of the disease will be the same: that is, it is always fatal. This means that requiring each different mutation to be separately licensed would be overly bureaucratic, not to mention a huge waste of time. Leigh’s disease’s seriousness does not vary between mutations, and so, in this case, it would be pointless for the HFEA to require each variation to be represented by a different OMIM number to receive separate consideration and separate licensing.
Transverse myelitis-like presentation of methanol intoxication: A case report and review of the literature
Published in The Journal of Spinal Cord Medicine, 2018
Hussein Algahtani, Bader Shirah, Raafat Ahmad, Hind Abobaker, Mohammed Hmoud
Brain injury in methanol intoxication is characterized by involvement of basal ganglia and subcortical regions bilaterally. The typical appearance of bilateral putaminal necrosis has been described as a characteristic finding for methanol intoxication but can be seen in other diseases such as Wilson's disease, Kearns-Sayre syndrome, and Leigh disease. The basis for the selective vulnerability of the putamen is due to its high metabolic demand and location in an end zone of vascular perfusion.6 The imaging findings of methanol intoxication include bilateral putaminal hemorrhagic necrosis, cerebral and intraventricular hemorrhage, cerebellar necrosis, and diffuse cerebral edema. These characteristic changes can be visualized on both CT and MRI. Hemorrhage is reported in approximately 7–14% of cases and is associated with poor prognosis. CT changes typically include bilateral putaminal hyperdensities (petechial hemorrhages) or hypodensities (due to edema alone) with surrounding poorly delineated edema in the subcortical white matter regions. Cystic necrosis of the affected areas may be seen in the chronic stage. MRI typically shows T1 hyperintensities because of the presence of hemorrhage with T2 hyperintensity of the lateral putamen which could extend into the pallidum, corona radiate, and the centrum semiovale. Other described features include edema and necrosis of hippocampi, cerebellum, and subcortical white matter, mainly in the frontal and occipital lobes with sparing of the subcortical U-fibres. The presence of cytotoxic edema is suggested by the restricted diffusion. The lesions are characterized by a non-specific contrast enhancement pattern which varies from no enhancement to rim and strong enhancement patterns.7
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy
Published in Journal of Neurogenetics, 2021
Ahmet Okay Caglayan, Kourosh Yaghouti, Tanyel Kockaya, Demet Kemer, Tufan Cankaya, Najim Ameziane, Ozgur Cogulu, Mahmut Coker, Cengiz Yalcinkaya
Mitochondrial diseases are rare, inherited disorders and show great phenotypic heterogeneity (Schon, DiMauro, & Hirano, 2012; Ylikallio and Suomalainen, 2012). We ruled out mitochondrial disorders either with whole-genome sequencing, muscle biopsy histochemistry or respiratory chain enzyme (RCE) analysis from muscle biopsy. Furthermore, when Leigh disease was suspected, MR spectroscopy was performed and there was neighter presence of abnormally high lactate levels in the basal ganglia, nor elevated serum and CSF lactate levels supports the diagnosis (Detre et al.,1991).