Rapidly Progressive Parkinsonism and Dementia with No Insomnia due to the PRNP D178N Mutation.
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ABSTRACT:
SUBMITTER: Park KW
PROVIDER: S-EPMC8490905 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description: Not available
| S-EPMC7525201 | biostudies-literature
Project description:BackgroundDural arteriovenous fistula (dAVF) rarely presents with a syndrome of reversible parkinsonism and rapidly progressive dementia, which has been described in 19 patients to date. However, its presenting features, pathophysiology, and response to treatment have not been reviewed.MethodsWe report the clinical course and treatment of two novel patients with this syndrome.ResultsDespite severe presentations, both patients recovered fully after fistula obliteration.ConclusionsAtypical parkinsonism with early cognitive changes and other focal neurological signs, along with features such as pulsatile tinnitus or worsening headache, should raise the possibility of dAVF. When treated, this syndrome is nearly always reversible, highlighting the importance of early diagnosis.
| S-EPMC6174482 | biostudies-literature
Project description:Dementia developed in a patient with widespread neurologic manifestations; she died within 5 months. Pathologic findings showed granulomatous inflammation with caseation necrosis, foreign body-type giant cells, and proliferative endarteritis with vascular occlusions. Broad-range polymerase chain reaction identified Mycobacterium neoaurum as the possible pathogen. Central nervous system infection by M. neoaurum may result in rapidly progressive dementia.
| S-EPMC3323241 | biostudies-literature
Project description:Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism-dystonia. The patient was studied clinically (videotaped exams, brain MRIs); molecular genetically (gene sequence analysis); and neuropathologically (histology, immunohistochemistry) during his 7-month disease course. The patient had parkinsonism, apraxia, aphasia, and dystonia, which progressed rapidly. Molecular genetic analysis revealed PRNP P102L mutation carrier status. Brain MRIs revealed progressive global volume loss and T2/FLAIR hyperintensity in neocortex and basal ganglia. Postmortem examination showed neuronal loss, gliosis, spongiform changes, and PrP deposition in the striatum. PrP immunohistochemistry revealed widespread severe PrP deposition in the thalamus and cerebellar cortex. Based on the neuropathological and molecular-genetic analysis, the rapidly progressing parkinsonism-dystonia correlated with nigrostriatal, thalamic, and cerebellar pathology.
| S-EPMC5015693 | biostudies-literature
Project description:OBJECTIVE:To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia. METHODS:Polymerase chain reaction amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP, and PRNP genes. RESULTS:A point mutation (D178N) was found in the PRNP gene. CONCLUSIONS:The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insomnia. However, a few cases have been reported with different clinical phenotypes. Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.
| S-EPMC2787867 | biostudies-literature
Project description:Background and purposeRapidly progressive dementia (RPD) is an emergency in cognitive neurology, defined as cognitive impairment affecting the daily living activities developed over less than 1 year. This study investigated the profile of patients with rapidly progressive dementia at first presentation.MethodsRetrospective case analysis was done in 187 patients with rapidly progressive dementia who presented to the Postgraduate Institute of Medical Education and Research, Chandigarh, India from January 2008 to August 2016. Patients were divided into three groups: (1) Reversible (treatable) secondary dementia group, (2) Prion dementia group (sporadic Creutzfeldt-Jakob disease), (3) Non-prion Neurodegenerative and vascular dementias (primary neurodegenerative and vascular dementia). Cases presenting with delirium secondary to metabolic, drug induced or septic causes and those with signs of meningitis were excluded.ResultsSecondary reversible causes formed the most common cause for RPD with immune mediated encephalitides, neoplastic and infectious disorders as the leading causes. The patients in this series had an younger onset of RPD. Infections presenting with RPD accounted for the most common cause in our series (39%) with SSPE (41%) as the leading cause followed by neurosyphilis (17.9%) and progressive multifocal leukoencephalopathy (15.3%). Immune mediated dementias formed the second most common (18.1%) etiologic cause for RPD. The neurodegenerative dementias were third common cause for RPD in our series. Neoplastic disorders and immune mediated presented early (< 6 months) while neurodegenerative disorders presented later (> 6 months).ConclusionsRapidly progressive dementia is an emergency in cognitive neurology with potentially treatable or reversible causes that should be sought for diligently.
| S-EPMC5773088 | biostudies-literature
Project description:Background:Developing methods for accurately diagnosing prion diseases has been a challenge in the search for successful diagnosis and treatment of rapidly progressive dementia. prion diseases are rare. However, they should be considered in the differential diagnosis. Despite their rarity, several other conditions are often misdiagnosed as prion diseases. Most Alzheimer's (AD) and Lewy Body Disease (LBD) patients also meet Creutzfeldt-Jakob Disease (CJD) criteria. The similarities in symptomology and pathology between these two patient groups complicates diagnosis and can compromise patient care. Prevalent methods for the diagnosis of CJD lack the heightened sensitivity to conclusively detect CJD. Of all currently available methods, real-time quaking induced conversion (RT-QuIC) analysis provides the highest sensitivity necessary to allow for an accurate diagnosis and yields early, quantitative results. Clinical case:A 75-year-old woman with rapidly progressing dementia, for which CJD could not be ruled out, appeared for care at a neurological center. Laboratory test results, Magnetic Resonance Imaging (MRI), Cerebrospinal Fluid (CSF) studies, Positron Emission Tomography (PET), and an Electroencephalogram (EEG) proved inadequate to confirm CJD. In addition to AD, LBD, or CJD, other potential, yet improbable, pathologies could have caused the patient's symptoms. The patient's diagnosis ultimately was limited to either LBD or prion disease. Spongiform encephalogy was confirmed by a brain biopsy, and further testing confirmed sporadic CJD. Conclusion:RT-QuIC offers higher sensitivity than currently prevalent diagnostic methods and appears most promising for CJD diagnosis.
| S-EPMC6362841 | biostudies-literature
Project description:Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations of the FIG4 gene encoding a PI(3,5)P(2) 5-phosphatase. We describe the 9-year clinical course of CMT4J, including asymmetric, rapidly progressive paralysis, in two siblings. Sensory symptoms were absent despite reduced numbers of sensory axons. Thus, the phenotypic presentation of CMT4J clinically resembles motor neuron disease. Time-lapse imaging of fibroblasts from CMT4J patients demonstrates impaired trafficking of intracellular organelles because of obstruction by vacuoles. Further characterization of plt mice identified axonal degeneration in motor and sensory neurons, limited segmental demyelination, lack of TUNEL staining and lack of accumulation of ubiquitinated protein in vacuoles of motor and sensory neurons. This study represents the first documentation of the natural history of CMT4J. Physical obstruction of organelle trafficking by vacuoles is a potential novel cellular mechanism of neurodegeneration.
| S-EPMC2724900 | biostudies-other
Project description:IntroductionWhipple's disease (WD) is a very rare systemic disease caused by the gram-positive bacillus Tropherymawhippleii 1st described in the year 1907. It is a disease with multisystem involvement and high degree of suspicion is needed for diagnosis. However the classical (OMM)oculomasticatory (OFMM)oculofacial-skeletal myorhythmia clubbed with dementia, head ache and other neurologic features should deserve an attempt to confirm whenever possible and therapeutic trial as it is one of the treatable dementias. Males are more affected and probable route of infection is oral though clustering of cases is not reported so far.Case report63 year old hypertensive patient presented with abdominal pain, weight loss, dementia, ataxia, extrapyramidal features, falls, up gaze palsy,oculomastigatory skeletal myorhythmia,skin of the face showing nodules which were pigmented and itchy fallowing HAJ pilgrimage.. Investigations for immune mediated,vasculitic,paraneoplastic, sarcoid were noncontributory. Duodenal biopsy showed nonspecific changes. MRI was consistent with changes reported in Whipples. Patient responded to treatment of Whipples disease.Discussion and conclusionOur patient presented with the typical and unique oculomastigatory myorhythmia clubbed with systemic features of whipplesdisese and showed response to treatment. Limitation of our report we could not do PCR due to lack of availability. This case is being reported for its rarity and to create awareness regarding the typical eye movements.
| S-EPMC5968653 | biostudies-literature
Project description:The most common cause of familial frontotemporal lobar degeneration with TAR DNA-binding protein-43 pathology (FTLD-TDP) has been found to be an expansion of a hexanucleotide repeat (GGGGCC) in a noncoding region of the gene C9ORF72. Hippocampal sclerosis (HpScl) is a common finding in FTLD-TDP. Our objective was to screen for the presence of C9ORF72 hexanucleotide repeat expansions in a pathologically confirmed cohort of "pure" hippocampal sclerosis cases (n = 33), outside the setting of FTLD-TDP and Alzheimer's disease (AD). Using a recently described repeat-associated non-ATG (RAN) translation (C9RANT) antibody that was found to be highly specific for c9FTD/ALS, we identified a single "pure" HpScl autopsy case with a repeat expansion in C9ORF72 (c9HpScl). Mutation screening was also performed with repeat-primed polymerase chain reaction and further confirmed with Southern blotting. The c9HpScl patient had a 14-year history of a slowly progressive amnestic syndrome and a clinical diagnosis of probable AD. Neuropsychological testing revealed memory impairment, but no deficits in other cognitive domains. Autopsy showed hippocampal sclerosis with TDP-43 immunoreactive neuronal inclusions relatively limited to limbic lobe structures. Neuritic pathology immunoreactive for p62 was more frequent than TDP-43 in amygdala and hippocampus. Frequent p62-positive neuronal inclusions were present in cerebellar granule neurons as is typical of C9ORF72 mutation carriers. There was no significant FTLD or motor neuron disease. C9RANT was found to be sensitive and specific in this autopsy-confirmed series of HpScl cases. The findings in this patient suggest that the clinical and pathologic spectrum of C9ORF72 repeat expansion is wider than frontotemporal dementia and motor neuron disease, including cases of progressive amnestic dementia with restricted TDP-43 pathology associated with HpScl.
| S-EPMC3926101 | biostudies-literature