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Von Economo’s encephalitis
Published in Avindra Nath, Joseph R. Berger, Clinical Neurovirology, 2020
Hallervorden described the gross pathology as a discoloration of the substantia nigra, the microscopic pathology dominated by neurofibrillary tangles; tangles in the cerebellar cortex or plaques like in Alzheimer disease were never seen. Interestingly, he described the multiple young patients who, even though their substantia nigran showed severe postencephaltic scarring, did not show any of the typical Parkinsonian features, i.e., rigidity, bradykinesia and gait disturbance [81–84]. Alpha synuclein has not been detected in these brains [85], but a tau protein triplet similar to the one seen in Alzheimer’s disease is present [83,86]. The observation of the latter suggested a biochemical means of pathologically distinguishing postencephalitic Parkinsonism from certain other neurodegenerative disorders, e.g., progressive supranuclear palsy and corticobasal degeneration [83]. Additionally “tuft-shaped” (non-reactive) astrocytes have been found in a widespread distribution throughout the central nervous system [84].
Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
Definitive diagnosis is established at autopsy. Research criteria have been proposed for corticobasal degeneration based on its varying phenotypes and complex clinicopathologic correlations.47 Diagnostic criteria for probable sporadic CBD includes: Insidious onset and progressive development over the course of at least 1 year.Age of onset over 50 years.Negative family history and negative genetic mutation affecting tau (e.g. MAPT).Clinical phenotype: Asymmetric presentation of two of (a) limb rigidity or akinesia, (b) limb dystonia, (c) limb myoclonus plus two of (d) orobuccal or limb apraxia, (e) cortical sensory deficit, (f) alien limb phenomena (more than simple levitation).OR one feature (a–f) above plus one of the following: Frontal behavioral–spatial syndrome: two of (a) executive dysfunction, (b) behavioral or personality changes, (c) visuospatial deficit.Nonfluent/agrammatic variant of primary progressive aphasia: effortful, agrammatic speech plus at least one of: (a) impaired grammar/sentence comprehension with relatively preserved single word comprehension, or (b) groping, disoriented speech production (apraxia of speech).
Genetic analysis of Vietnamese patients with early-onset Alzheimer's disease
Published in International Journal of Neuroscience, 2022
Trang Mai Tong, Thuy Thi Hong Dao, Loc Phuoc Doan, Dat Thanh Nguyen, Quynh-Tho Thi Nguyen, Thanh-Thuy Thi Do, Kiet Dinh Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Thang Cong Tran, Hoa Giang
We reported a novel missense mutation of APP gene (p.Gly383Glu) in a female patient (G1771) with AOO of 55 year. This novel mutation was also confirmed using Sanger sequencing. Although this mutation locates outside of the amyloid-beta region, both PolyPhen and SIFT tools predict it as likely pathogenic. This patient started to develop language impairment three years ago despite no history of dementia in her family. When her MRI scans revealed mild cerebral atrophy, cognitive function assessment by DSM-5 scale on this patient confirmed the AD diagnosis. Interestingly, her parents did not show any sign of dementia while her siblings may be too young to express any symptom at the moment (Figure 3a). Follow-up checking showed deleterious dementia status and corticobasal degeneration (CBD) in patient G1771. Future clinical and segregational analyses will provide more information about the mutation's impact in the family. In addition, further biological assessment of this novel mutation is required to validate its classification as a pathogenic variant.
Alien hand syndrome – a rare presentation of stroke
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Kelly Le, Christine Zhang, Lisa Greisman
The frontal variant of AHS is theorized to occur when the primary motor cortex controlling hand movement is isolated from the premotor cortex’s influence. Therefore, the brain is still able to command some body movements but cannot generate self-control over these movements, leading to disinhibited movements. The posterior variant of AHS is believed to occur when disruptions develop between the parietal and temporal cortices. This theory is supported by regional cerebral blood flow (rCBF) studies using single-photon emitted computed tomography (SPECT) and functional MRI (fMRI). In normal patients, fMRI shows activation of multiple extensive neural networks upon initiation of motor activity, whereas isolated activation of the contralateral primary motor cortex is seen in patients with posterior AHS[3]. In a case study reported by Delrieu et al., seven patients with corticobasal degeneration underwent rCBF. Six of the seven patients demonstrated reduced rCBF in the right parietal region compared with controls, and three patients were diagnosed with AHS[4]. In our patient, involvement of the parietal area along with proprioception deficits correlated most closely with posterior-variant AHS. However, signs and symptoms of the three variants commonly overlap, making it difficult to determine precisely which AHS variant is present.
Treatment of psychiatric disturbances in hypokinetic movement disorders
Published in Expert Review of Neurotherapeutics, 2019
Isabella Berardelli, Daniele Belvisi, Massimo Pasquini, Andrea Fabbrini, Federica Petrini, Giovanni Fabbrini
Corticobasal degeneration (CBD) is a rare, progressive neurodegenerative disorder characterized by an akinetic-rigid parkinsonian syndrome with poor response to levodopa and a combination of asymmetric motor (rigidity, akinesia, dystonia and myoclonus) and non-motor (apraxia, agnosia, cortical sensory loss and alien limb phenomena) symptoms, possibly associated with cognitive-behavioral disorders [173]. CBD patients may show depression, anxiety and behavioral disturbances. No clinical trials have been conducted on the treatment of neuropsychiatric disorders in CBD [174]. Tarakita et al [175] described a patient with depression who developed a possible CBS syndrome. In this patient depression improved after Ldopa administration, and in another patient with CBS, severe depression and suicidal ideation improved after two months treatment of 50 sertraline mg/day (GDS score 24/30 at baseline and 17/30 after treatment) [176].