Results 81 to 90 of about 1,100,883 (182)

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Orphanet Journal of Rare Diseases, 2012
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000.
Walterfang Mark, Chien Yin-Hsiu, Imrie Jackie, Rushton Derren, Schubiger Danielle, Patterson Marc C   +5 more
doaj   +1 more source

An unusual case with vertical supranuclear gaze palsy [PDF]

Journal of Clinical Neuroscience, 2019
Chaewon Shin, Tae-Beom Ahn
openaire   +1 more source

Video 4.40 Vertical gaze palsy, abnormal optokinetic nystagmus and inability to suppress blinking to light in progressive supranuclear palsy (PSP) from Neuro-Ophthalmology and Neuro-Otology Textbook

, 2020
: This is a 75-year-old woman with a diagnosis of progressive supranuclear palsy (PSP). Examination demonstrated vertical supranuclear gaze palsy (i.e., it could be overcome by the vertical vestibulo-ocular reflex [VOR]), saccadic smooth pursuit and VOR ...
Daniel R. Gold, DO
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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

BMC Neurology, 2018
Background Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical ...
Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata, Yuji Takahashi   +12 more
doaj   +1 more source

Reduced maximal range of ocular movements and its response to acute levodopa challenge in Parkinson's disease

Frontiers in Aging Neuroscience
IntroductionAlthough restriction of vertical ocular range of motion is known to be the hallmark of progressive supranuclear palsy (PSP), the maximal amplitude of ocular movement has not been quantitatively assessed despite of accumulating evidences of ...
Juan Li, Yuewen Li, Xianzhou Chu, Mengxue Jiang, Tieyu Wu, Xianwen Chen   +5 more
doaj   +1 more source

Supranuclear Vertical Gaze Palsy

, 1990
Supranuclear Paralysis of Up and Downgaze; Convergence Insufficiency; Slow Hypometric Horizontal Saccades; Saccadic PursuitAmyotrophic Lateral Sclerosis - Perspectives from Genetics: https://collections.lib.utah.edu/details?id=2174176 Amyotrophic ...
Shirley H. Wray, MD, PhD, FRCP
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A clinical case of adult onset Niemann–Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2016
The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage disease. It highlights the main clinical manifestations and classification of the disease.
E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin   +6 more
doaj   +1 more source

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

Orphanet Journal of Rare Diseases, 2019
Background Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinical presentation of the disease.
Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb   +6 more
doaj   +1 more source

Dementia with Lewy bodies with supranuclear gaze palsyc : a matter of diagnosis

, 2005
Description of a case of probable dementia with Lewy bodies featuring parkinsonism, dementia and supranuclear gaze palsy. This is the first patient to our knowledge affected with vertical gaze palsy receiving clinical diagnosis of DLB when alive and to ...
A. Chiti, A. Del Sole, L. Maggiore, G. Lucignani, F. Clerici, P.L. Ratti, C. Mariani, S. Pomati   +7 more
core   +1 more source

Progressive Supranuclear Palsy

, 1986
Example of patient with progressive supranuclear palsy. Discussion of difference between saccadic movement in supranuclear palsy and nystagmus. Shows saccadic intrusions in forward gaze, pursuit, saccades, and doll\u27s head maneuver.http://www.ncbi.nlm ...
Kathleen B. Digre, MD
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