Neurodegenerative diseases are legion and their classification just as protean. Oxford Textbook of Neuroimaging (Oxford Textbooks in Clinical Neurology). Neuroimaging of Sleep and Sleep Disorders. Eric Nofzinger, Pierre Maquet, Michael J Thorpy. Magnetic Resonance Imaging of Neurological Diseases in Tropics. Fatal familial insomnia: Clinical features and early identification. Krasnianski A, Bartl M, Sanchez Juan PJ, Heinemann U, Meissner B, Varges D, Schulze-Sturm U, Kretzschmar HA, Schulz-Schaeffer WJ, Zerr I. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P. "FATAL FAMILIAL INSOMNIA FFI." Online Mendelian Inheritance in Man. Background: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. This case is a compelling example that even with evidence of leukoencephalopathy, prion disease should be an important differential diagnosis of rapidly progressive dementia and related diseases. Gene sequencing confirmed a diagnosis of FFI with CADASIL. Transmission electron microscopy showed osmiophilic particle deposition in the matrix of medial smooth muscle cells. In addition, arteriosclerosis was prominent. On biopsy, the brain tissue sections showed spongiform changes with gliosis, neuronal degeneration, and prion protein deposition in a portion of the neurons. MRI indicated a diffuse white matter abnormality and microbleeding on the susceptibility-weighted imaging. The patient also suffered a typical episode of transient global amnesia. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Ī 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration. Routine brain CT and MRI usually reveal non-specific features. The ANT is one of the nuclei preferentially affected in prion disorders, such as fatal familial insomnia, but the relationship between ANT involvement and the clinical manifestations of these disorders remains unclear. Because of its central connectivity and possible role in propagation of seizure activity, the ANT has become an attractive target for deep brain stimulation (DBS) for treatment of medically refractory epilepsy. Experimental models also indicate that the ANT may have a role in the propagation of seizure activity both in absence and in focal seizures. Clinical and experimental evidence indicate that damage of the ANT or its inputs from the mammillary bodies are primarily responsible for the episodic memory deficit observed in Wernicke-Korsakoff syndrome and thalamic stroke. As in other thalamic nuclei, neurons of the ANT have 2 different state-dependent patterns of discharge, tonic and burst-firing some ANT neurons also contribute to propagation of the theta rhythm, which is important for mechanisms of synaptic plasticity of the hippocampal circuit. Via its connections with the anterior cingulate and orbitomedial prefrontal cortex, the ANT may also contribute to reciprocal hippocampal-prefrontal interactions involved in emotional and executive functions. The ANT consist of 3 subnuclei with distinct connectivity with the subicular cortex, retrosplenial cortex, and mammillary bodies. Fatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom. The anterior nucleus of thalamus (ANT) is a key component of the hippocampal system for episodic memory. The other human prion diseases are kuru, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia
Prions do not provoke an immune response. Although sometimes also referred to as a “slow virus,” these agents contain no nucleic acids and are also resistant to processes that inactivate conventional viruses. And scientists believe that a cure for fatal familial insomnia, rare as it is, may open the door to cures for other rogue protein diseases, and similar maladies like Alzheimer's and Parkinson's. Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation.Ĭreutzfeldt-Jakob disease (CJD) is one of 4 known rare human diseases associated with transmissible spongiform encephalopathy agents, also called prions (proteinaceous infectious particles).
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