Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.

Background: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear.

Objectives: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C.

Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.

Background: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes.

Objective: The aim was to investigate optic disc and retinal architecture in SCA2.

F-waves persistence in peripheral sensory syndromes.

Background: The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation. However, this task is often challenging in clinical practice. We hypothesize that F-wave assessment might be helpful, since it is able to detect subtle signs of motor involvement, which are found in SP and SM, but not in SN.

Autonomic function in sporadic and familial ALS type 8.

Objective: To characterize and compare autonomic function in patients with sporadic (sALS) and familial ALS type 8 (fALS8).

Methods: We selected 11 patients with sALS (7 men), 14 with fALS8 (8 men) and 26 controls (15 men). All groups were gender and age-matched.

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation.

Objective: To characterize and quantify autonomic involvement in patients with RFC1-related disorder of adult-onset cerebellar ataxia and idiopathic sensory neuropathy.

Methods: We enrolled 16 subjects with biallelic RFC1 (AAGGG)n expansions and 16 age and sex-matched healthy controls that underwent comprehensive clinical and neurophysiological evaluation. Scales for Outcomes in Parkinson's Disease Autonomic Dysfunction (SCOPA-AUT) score was used to assess autonomic symptoms.

RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.

Background: RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.

Objectives: The objectives were to determine the SC structural signature in RFC1-related disorder in vivo and to identify potential clinical correlates for these imaging abnormalities.

Brain Structural Signature of RFC1-Related Disorder.

Background: The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late-onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional reports have expanded on the phenotypic manifestations related to RFC1, although little is known about the pattern and extent of structural brain abnormalities in this condition.

Objective: The aim is to characterize the structural signature of brain damage in RFC1-related disorder, correlating the findings with clinical symptoms and normal brain RFC1 expression.

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.

Background: Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected. Despite this, little is known about the brain signature of HSPs, in particular regarding stratification for specific genetic subtypes.

Objective: We aimed to characterize cerebral and cerebellar damage in five HSP subtypes (9 SPG3A, 27 SPG4, 10 SPG7, 9 SPG8, and 29 SPG11) and to uncover the clinical and gene expression correlates.

Laryngeal electromyography in amyotrophic lateral sclerosis.

Background: Bulbar involvement is a hallmark of amyotrophic lateral sclerosis (ALS), but surprisingly very few studies have addressed the frequency, pattern and clinical relevance of laryngeal involvement in the disease.

Methods: Twenty-six patients with spinal-onset ALS underwent nasofibroscopy (NF), followed by laryngeal electromyography (LEMG). We also studied resting activity and motor unit potentials of the genioglossus and masseter muscles.

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies.

Methods: Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN.

Stroke Chameleons Manifesting as Distinct Radial Neuropathies: Expertise Can Hasten the Diagnosis.

Objective: Stroke chameleons encompass an atypical group of syndromes that do not initially appear to be cerebrovascular accidents. The objective of this study was to report patients with different lesions of central origin clinically presenting as wrist drop and with a semiology similar to that produced by peripheral lesions of the radial nerve at different topographical levels.

Methods: This is a case series study of patients presenting with wrist drop during the acute phase of stroke who were assessed by clinical examination and CT and MRI brain scans.

Abnormal Spontaneous Eye Movements as Initial Presentation of Organophosphate Poisoning.

Background: Atypical ocular bobbing may result from an intentional poisoning from an organophosphate compound.

Phenomenology Shown: The patient exhibited conjugated, slow, arrhythmic, unpredictable eye movements in all directions, diagnosed as atypical ocular bobbing.

Educational Value: This is a rare, well-documented, clinically relevant case for medical students for correct diagnosis and appropriate treatment of organophosphate intoxication.

Delayed recall memory impairment in patients with Parkinson's disease.

Unlabelled: Age is one of the risk factors for dementia in patients with Parkinson's disease (PDD). Distinct cognitive syndromes of Parkinson's disease (PD) have been identified in previous studies. Questions about the role of such cognitive disorders in PD outcomes, especially memory dysfunction, in patients with PD remain unanswered.

Effects of blood storage on ice in biochemical and arterial blood gas analysis of rats.

Purpose: To investigate the effects of blood storage in biochemical and arterial blood gas analysis of Wistar rats.

Methods: Ten adult male rats with weights between 300-350 g were used. The catheterization of the internal carotid artery were performed, followed by withdrawal of 3 ml of blood using 3 separate syringes each containing 1 ml.