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Atypical Teratoid / Rhabdoid Tumors – AT/RT
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Michael C. Frühwald, Jaclyn A. Biegel, Susan N. Chi
The report of a family with hereditary rhabdoid tumors but no detectable mutation of SMARCB1 suggested the presence of a second genomic locus distinct from SMARCB1.40 Subsequent reports and candidate gene analyses led to the discovery of SMARCA4 as a tumor suppressor in AT/RT.41,42 Intriguingly, genetically engineered homozygous mice with knockout of SMARCA4 are embryonically lethal.43 Heterozygous mice do not show rhabdoid tumors but instead develop gynecologic and pulmonary neoplasms.44 In an attempt to specify the cell of origin for AT/RT, Moreno et al. deleted SMARCB1 and SMARCA4 in cerebellar granule neurons of transgenic mice. While these animals demonstrated a severely hypomorphic cerebellum and neurologic deficits, they did not develop any tumors, arguing against a cerebellar granule cell origin for AT/RT.45
What Is Psychoneuroimmunology (PNI)?
Published in Jay A. Goldstein, Chronic Fatigue Syndromes, 2020
The notion that viral diseases could cause neuropsychological deficits is not new. The influenza epidemic of 1918 produced encephalitis lethargica and suggested that viral agents could cause psychosis. In recent years, HIV infection has sometimes been noted to present with dementia or psychiatric disturbances as the initial manifestation of the illness. Temporal lobe epilepsy is thought to be virally induced at times, and there is a growing psychiatric literature about the possible viral etiology of many syndromes.5 Mice neonatally infected with HIV-1 are hyperactive.6 The behavioral alterations are thought to be produced by viral antigen and inflammation in the brain, especially by altering cerebellar granule cell migration, as well as being affected by congenital resistance of the immune system. Neonatally infected mice do not develop cerebellar lesions after infection with Tamiami virus, for example.
Progressive multifocal leukoencephalopathy
Published in Avindra Nath, Joseph R. Berger, Clinical Neurovirology, 2020
Eric M. L. Williamson, Joseph R. Berger
Limb weakness in HIV-associated PML has been observed in over 50% of patients in most series. Cognitive disturbances and gait disorders were seen in approximately one quarter to one-third of patients in one cohort [138]. Diplopia, noted by 9% of patients in the same set of patients, is usually the consequence of involvement of the third, fourth or sixth cranial nerves and was typically observed in association with other brain stem findings. In another case series, limb weakness occurred in about 60% of PML presentations, gait disturbance in 65%, and visual field cuts in 20% [200]. Visual field loss due to the involvement of the retrochiasmal visual pathways is significantly more common than diplopia or other visual disturbances in PML, as described by a number of case series [4,138,201]. Optic nerve disease does not occur with PML and, although the lesions of PML have been detected in the spinal cord of HIV-infected patients [202], clinical myelopathy secondary to PML is extremely rare. We mentioned a description of JCV meningoencephalitis [131], but this and JCV encephalopathy are rare and the latter would be primarily characterized by altered mentation [48], which is common in PML otherwise. JCV cerebellar granule cell neuronopathy spares supratentorial brain to preferentially infect cerebellar granule cells, producing cerebellar atrophy that manifests as ataxia, speech disturbance, and gait abnormalities [203]. PML does not involve the peripheral nervous system.
Infratentorial onset of progressive multifocal leukoencephalopathy in a patient with systematic lupus erythematosus complicated with lymphoma: a case report
Published in Modern Rheumatology Case Reports, 2021
Mita Sakuraba, Shinji Watanabe, Yasuhiro Nishiyama, Kenta Takahashi, Kazuo Nakamichi, Mikito Suzuki, Takashi Nawata, Kota Komai, Takahisa Gono, Mitsuhiro Takeno, Tadaki Suzuki, Kazumi Kimura, Masataka Kuwana
It remains unknown why our case had such an atypical course of progression of the PML lesions, which originated from the infratentorial area and extended to the midbrain and medulla and the white matter of the cerebral hemispheres. Our case had progressive cerebellar atrophy and pathologically proven JCV-infected cells in the cerebellar granule cell layer in addition to adjacent classical PML lesions in the white matter. It has been reported that the cerebellar granule cell layer is affected in the PML brain [23,24], and JCV causes lytic infection of granule cell neurons [25]. In this regard, JCV granule cell neuronopathy (GCN) was proposed as a disease entity with selective infection of JCV to the cerebellar granule cell layer in the absence of classic PML lesions in the underlying white matter [26] and was associated with unique mutations located in the C-terminus of the VP1 gene of JCV [27]. On the other hand, pleiotropic infection with wild-type and mutated JCV suggests that JCV GCN potentially evolves into the PML spectrum [28].