Editorial Comment: Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia and Hallucinations in an Adolescent Male

The authors describe a case of Niemann-Pick disease type C, which features many typical findings. The history of difficulty with vertical gaze beginning at 2 years of age and the confirmation of a vertical supranuclear gaze palsy at 13 years, together with cerebellar dysfunction, epilepsy, cognitive decline, sensorineural hearing loss and spasticity should have pointed immediately to Niemann-Pick disease type C as the most likely diagnosis. It is not clear from the protocol if the patient had splenomegaly or if imaging studies were performed to seek evidence of organomegaly. If splenomegaly was present, the diagnosis would be confirmed for practical purposes and mitochondrial disorders could have been eliminated from the differential diagnosis, as they virtually never cause isolated splenomegaly.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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This article reviews the application of an alternative method, functional near-infrared spectroscopy (fNIRS), to the study of cerebral oxygenation changes in MCI and dementia. We synthesized 36 fNIRS studies that examined hemodynamic changes during both the resting state and the execution of tasks of word retrieval, memory, motor control, and visuospatial perception in MCI and dementia. This qualitative review reveals that (amnestic) MCI and AD patients have disrupted frontal and long-range connectivity in the resting state compared to individuals with normal cognition (NC). These patients also exhibit reduced frontal oxyg...
Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
Conclusions: The study highlights the requisite components of a first of its kind online training and support program in India by integrating the experiences, motivations, challenges, and expectations of caregivers and professionals involved in dementia care.Clinical Implications: The focus group discussions in the current study provide a road map for the development of an online caregiver training and support program underlying the perspectives of the stakeholders for the consolidation of an effective dementia care program for lower resourced settings. PMID: 32081097 [PubMed - as supplied by publisher]
Source: Clinical Gerontologist - Category: Geriatrics Tags: Clin Gerontol Source Type: research
CONCLUSIONS: This case indicates the need for early diagnosis and multidisciplinary action to achieve satisfactory quality of life in patients with 18q- syndrome. PMID: 32087092 [PubMed - as supplied by publisher]
Source: Neuroendocrinology Letters - Category: Endocrinology Tags: Neuro Endocrinol Lett Source Type: research
We reported the case of a patient diagnosed with DLGNT who presented with language developmental delay and positive but subtle changes in imaging two years before the emergence of typical clinical symptoms. Few studies were conducted on early tumor symptoms due to the limited number of cases. We hypothesized that with the existence of pre-tumor symptoms, language developmental delay may be related to tumor. PMID: 32087090 [PubMed - as supplied by publisher]
Source: Neuroendocrinology Letters - Category: Endocrinology Tags: Neuro Endocrinol Lett Source Type: research
Conclusion and significanceThe knowledge of structure-function relationships between different areas of the brain is necessary for characterizing the underlying dynamics. Hence, features based on EBC can provide a more reliable automatic seizure detection approach.
Source: Biomedical Signal Processing and Control - Category: Biomedical Science Source Type: research
We report a patient carrying a novel pathogenic variant p.(Tyr101Cys) in ISCA1 leading to MMDS type 5. He initially presented a psychomotor regression with loss of gait and language skills and a tetrapyramidal spastic syndrome. Biochemical analysis of patient fibroblasts revealed impaired lipoic acid synthesis and decreased activities of complex I and II of respiratory chain. While ISCA1 is involved in mitochondrial machinery of iron-sulfur cluster biogenesis, these dysfunctions are secondary to impaired maturation of mitochondrial proteins containing the [4Fe-4S] clusters. Expression and purification of the human ISCA1 sh...
Source: Mitochondrion - Category: Biochemistry Source Type: research
Publication date: March 2020Source: European Journal of Surgical Oncology, Volume 46, Issue 3Author(s): Sara Hägg, Juulia JylhäväAbstractColorectal cancer (CRC) is a chronic disease of the old population with slow development progressing into clinical signs and symptoms. Biological aging is characterized by e.g. mitochondrial dysfunction and epigenetic alterations (e.g. methylation) - mechanisms that are also important in cancer development. For CRC, specific types of tumors are distinguishable by their methylation patterns and several detection methods using different epigenetic marks have been developed as...
Source: European Journal of Surgical Oncology (EJSO) - Category: Surgery Source Type: research
Photo credit Jack Stapleton Dear Carol: My mother has lived in the same nursing home for over two years and up until recently we were pleased with the care she’s receiving. She has physical illnesses as well as dementia. I visit her at least twice a week and she’s seemed as happy as someone with her challenges can be. However, lately, she’s been complaining about things not being done for her. She’s scheduled for a twice-weekly bath, but she keeps telling me that she’s not getting one. She says that her food is cold and that’s why she won’t eat. She tells me that they won’t l...
Source: Minding Our Elders - Category: Geriatrics Authors: Source Type: blogs
CONCLUSIONS: The utility of neuropsychology emanates from its focus on brain functioning and the discipline's appreciation for the relationship between brain functioning on cognition, mental state, and behavior. Early and routine referral for neuropsychological assessment allows for the objective determination of normal versus abnormal neurocognitive functioning, provides a baseline for serial reassessment, and leads to the more rapid deployment of effective treatments. Beyond the hospital and clinic, neuropsychological expertise is increasingly sought after as integral to the legal system when decisions regarding eligibil...
Source: NeuroRehabilitation - Category: Rehabilitation Tags: NeuroRehabilitation Source Type: research
Authors: Elahifasaee F, Li F, Yang M Abstract Magnetic resonance (MR) imaging is a widely used imaging modality for detection of brain anatomical variations caused by brain diseases such as Alzheimer's disease (AD) and mild cognitive impairment (MCI). AD considered as an irreversible neurodegenerative disorder with progressive memory impairment moreover cognitive functions, while MCI would be considered as a transitional phase amongst age-related cognitive weakening. Numerous machine learning approaches have been examined, aiming at AD computer-aided diagnosis through employing MR image analysis. Conversely, MR bra...
Source: Computational and Mathematical Methods in Medicine - Category: Statistics Tags: Comput Math Methods Med Source Type: research
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