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Article
Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34
Spinocerebellar ataxia type 34 (SCA34) is a dominantly inherited disease that causes late-onset ataxia, in association with skin lesions in the form of erythrokeratodermia variabilis. It is caused by mutations...
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Article
Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia
Potassium channels (KCN) are transmembrane complexes that regulate the resting membrane potential and the duration of action potentials in cells. The opening of KCN brings about an efflux of K+ ions that induces ...
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Article
Guillain–Barré Syndrome with Normal Nerve Conduction Study Associated with COVID-19 Infection in a Child: Correspondence
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Article
Two-year follow-up of docosahexaenoic acid supplementation in spinocerebellar ataxia type 38 (SCA38)
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Article
History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration
The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and hereditary spastic paraplegias, over the last century and a half. Original...
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Article
Pathogenic events in very early Guillain–Barré syndrome: neither demyelination nor axonal degeneration but endoneurial inflammatory oedema
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Article
Open AccessAutoantibody screening in Guillain–Barré syndrome
Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain u...
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Article
Re-evaluating the accuracy of optimized electrodiagnostic criteria in very early Guillain-Barré syndrome: a sequential study
Using recent optimized electrodiagnostic criteria sets, we aimed at verifying the accuracy of initial nerve conduction studies (NCS) in classic very early Guillain-Barré syndrome (VEGBS), ≤ 4 days after onset,...
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Article
Axonal degeneration in Guillain–Barré syndrome: a reappraisal
The aim of this review was to analyse the pathophysiology of axonal degeneration in Guillain–Barré syndrome (GBS) with emphasis on early stages (≤ 10 days after onset). An overview of experimental autoimmune n...
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Article
Hans Joachim Scherer (1906–1945)
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Article
Open AccessLRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2...
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Article
Ultrasonography of cervical nerve roots: cross-sectional reference values according to age
The aim of this study is to describe the normal cross-sectional area (CSA) and appearance of cervical nerve roots in ultrasound, correlating it to age and other patient somatic parameters.
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Article
Inflammatory oedema of nerve trunks may be pathogenic in very early Guillain–Barré syndrome
The aim of this paper is to analyse the pathological background of very early Guillain-Barré (VEGBS) (≤ 4 days after onset) comparing it with initial stages of experimental autoimmune neuritis (EAN). The patho...
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Article
Contributions to the study of spinocerebellar ataxia type 38 (SCA38)
To report clinical and ancillary findings in a kindred with spinocerebellar ataxia 38 (SCA38).
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Article
POLR3A-related spastic ataxia: new mutations and a look into the phenotype
Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spas...
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Article
Livedo racemosa generalisata: an anthological vision through Vladímir Lébedev painting
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Article
Hereditary primary lateral sclerosis and progressive nonfluent aphasia
To report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia.
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Article
Sneddon syndrome and non-bacterial thrombotic endocarditis: a clinicopathological study
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Article
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohor...
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Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres
The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patient...
