Results 51 to 60 of about 25,100 (235)
Amyloid myopathy: A rare cause of quadreparesis with bulbar palsy
IP Indian Journal of Neurosciences, 2023 Amyloidosis is a systemic disease that results in the deposition of amyloid fibrils in a variety of tissues causing their progressive dysfunction. Systemic amyloidosis involves Kidney, Heart, Skin, Peripheral nerve and rarely muscle. Amyloid myopathy (AM)
Gaurav J. Shah +5 more
semanticscholar +1 more source
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family [PDF]
, 2018 Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is ...
Bras, J +3 more
core +1 more source
FACTORS AFFECTING THE DIAGNOSTIC DELAY IN AMYOTROPHIC LATERAL SCLEROSIS [PDF]
, 2012 Background: Although amyotrophic lateral sclerosis (ALS) is a relentlessly progressive disorder, early diagnosis allows a prompt start with the specific drug riluzole and an accurate palliative care planning.
CELLURA, Eleonora +3 more
core +1 more source
European Psychiatry, 2023 Introduction The response to conventional antiparkinsonian medications is elusive in atypical parkinsonian disorders. Improvement in parkinsonian symptoms in atypical parkinsonian disorders has been reported with anecdotal use of Amantadine. The role of
S. M. Tripathi, P. Chutia
doaj +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Pyramidal system involvement in progressive supranuclear palsy – a clinicopathological correlation
BMC Neurology, 2019 Background We aimed to produce a detailed neuropathological analysis of pyramidal motor system pathology and provide its clinical pathological correlation in cases with definite progressive supranuclear palsy (PSP).
Zuzana Stejskalova +7 more
doaj +1 more source
Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis [PDF]
, 2013 Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. Phenotypically, there is marked heterogeneity.
Appel, Stanley +16 more
core +1 more source
Frontiers in Pediatrics, 2022 BackgroundPathogenic variants in the FIG4 gene have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral ...
Yonglin Yu +7 more
doaj +1 more source
A case of Bickerstaff's brainstem encephalitis in childhood [PDF]
, 2010 Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and ' ...
Al-Din +22 more
core +1 more source
A Korean family with AGel amyloidosis presenting with progressive facial and bulbar palsies
Annals of Clinical Neurophysiology, 2022 AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness.
Minsung Kang +2 more
openaire +1 more source