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. METHODS: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We compared SD-OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7). RESULTS: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup-to-disc ratio was more frequent in SCA2 than in controls and other SCAs. CONCLUSIONS: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder.

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. For each subject, Scale for Outcomes in Parkinson's Disease for Autonomic Symptoms (SCOPA-AUT) was applied and data from heart rate variability, Quantitative Sudomotor Axon Reflex Test (QSART) and skin sympathetic response (SSR) were collected. These data were compared across groups using nonparametric tests. P-values < 0.05 were considered significant. RESULTS: SCOPA-AUT revealed predominant clinical complaints in thermoregulatory, pupillomotor and sexual domains in fALS8 relative to sALS as well as controls. Neurophysiological tests demonstrated significant differences in Valsalva ratio, Expiratory:Inspiratory index and RR minimum values in both ALS groups relative to controls. Sudomotor dysfunction was also observed in sALS and fALS8 groups, as shown by reduced medial forearm and foot QSART volumes and absence of SSR in lower limbs. CONCLUSIONS: Dysautonomia - cardiac and sudomotor - is part of the phenotype in sALS and fALS8. The profile of autonomic symptoms, however, is different in each group. SIGNIFICANCE: Patients with fALS8 and sALS have autonomic dysfunction involving both sympathetic and parasympathetic divisions.

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. METHODS: We obtained high-resolution brain T1 and diffusion tensor image (DTI) datasets in this cross-sectional case-control study (n = 84). The MRICloud, FreeSurfer, and CERES-SUIT pipelines were employed to assess cerebral gray (GM) and white matter (WM) as well as the cerebellum. RESULTS: Brain abnormalities were found in all but one HSP group (SPG3A), but the patterns were gene-specific: basal ganglia, thalamic, and posterior WM involvement in SPG4; diffuse WM and cerebellar involvement in SPG7; cortical thinning at the motor cortices and pallidal atrophy in SPG8; and widespread GM, WM, and deep cerebellar nuclei damage in SPG11. Abnormal regions in SPG4 and SPG8 matched those with higher SPAST and WASHC5 expression, whereas in SPG7 and SPG11 this concordance was only noticed in the cerebellum. CONCLUSIONS: Brain damage is a conspicuous feature of HSPs (even for pure subtypes), but the pattern of abnormalities is genotype-specific. Correlation between brain structural damage and gene expression maps is different for autosomal dominant and recessive HSPs, pointing to distinct pathophysiological mechanisms underlying brain damage in these subgroups of the disease. © 2021 International Parkinson and Movement Disorder Society.

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. RESULTS: Twenty-four patients presented neurogenic changes in at least one laryngeal muscle. There were fibrillation and/or fasciculation potentials associated with chronic neurogenic changes in the same muscle in 16 patients; of these, 9 had no alteration in the genioglossus. We found no patient with tongue neurogenic changes and normal LEMG. NF was abnormal in 14 patients; in the remaining 12, LEMG identified neurogenic changes in 11 of them. CONCLUSION: LEMG is able to identify laryngeal denervation in patients with ALS, sometimes before clinical manifestations are noticed. This technique may be a useful diagnostic tool for selected patients with suspicion of ALS.

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.

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. RESULTS: Three cases presenting as monoparesis were evaluated. In all patients, the MRI revealed restricted diffusion in the pre- and post-central gyrus. Electromyography showed that the functionality of the radial, median, and ulnar nerves were intact in all three cases. The monoparesis resolved completely within 1 month of rehabilitation therapy, and no evidence of recurrent or new events was reported during the 6-month follow-up after stenting. CONCLUSION: The central message of this study is that when acute onset symptoms are present in a relatively old patient with vascular risk factors, stroke should be considered as the possible aetiology until proven otherwise, and the appropriate steps should be taken to avoid a delay in the treatment and to improve outcomes.

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

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. OBJECTIVE: To establish possible correlations between delayed recall memory (episodic memory), age, and other demographic variables in patients with PD. METHODS: A two-stage protocol was applied. Patients with delayed recall memory compromise, selected based on a brief battery of tests (BBRC-Edu), were classified as dementia cases and submitted to the Mattis Dementia Rating Scale (MDRS). Data from patients with memory disturbances were compared against individuals without episodic memory impairment, and correlated with age and demographic variables. RESULTS: Except for identification and naming, all subtests in the screening battery showed a significant difference (p≤0.0001) between the memory-compromised group (case) and the group without memory impairment (no case). The results also correlated negatively with age (p≤0.0001) and positively with level of education (p=0.0874) in patients with PD. CONCLUSION: The analysis showed a significant relationship between age and dementia characterized by impaired episodic memory. The findings support reports of a wide spectrum of neuropsychological performance impairment in PD with age, particularly dementia associated with memory deterioration. No correlations between disease duration and cognitive dysfunction were evident.

Idade é um fator de risco bem determinado para surgimento de demência em pacientes com doença de Parkinson (PDD). Estudo prévio tem demonstrado diferentes distúrbios cognitivos em portadores da doença de Parkinson (PD). O significado do comprometimento da memória é pouco compreendido. OBJETIVO: Estabelecer possíveis correlações entre comprometimento de memória de evocação tardia (memória episódica), idade e outras variáveis demográficas em pacientes com DP. MÉTODOS: Os pacientes foram submetidos a um protocolo dividido em duas etapas. Os pacientes com alterações na memória de evocação tardia (memória episódica), selecionados a partir de bateria breve de rastreio cognitivo (BBRC-Edu) foram classificados como portadores de demência e submetidos ao exame de rastreio para demência de Mattis (MDRS). Os dados relacionados a comprometimento da memória, foram comparados ao grupo que não apresentava alterações e correlacionados a idade e outras variáveis demográficas. RESULTADOS: Com exceção de identificação e nominação, todos os sub-testes mostraram diferenças significativas (p≤0,0001) entre o grupo que apresentava disfunções na memória episódica e o grupo que não apresentava alterações. Foi demonstrada correlação negativa com idade (p≤0,0001) e positiva com nível educacional (p=0.0874). CONCLUSÃO: O estudo registrou correlação significativa entre idade e demência caracterizada por comprometimento da memória episódica. Os resultados dão suporte para existência de amplo espectro de disfunções associadas ao envelhecimento, em pacientes com PD. Não foram demonstradas correlações significativas com tempo de doença.