To compare structural alterations in the brains of Meige syndrome (MS) patients with those of healthy controls (HCs) by using surface-based morphometry (SBM) and compare structural differences between the brains of MS patients with sleep disorders and those of MS patients without sleep disorders.

We investigated cortical surface parameters in 42 MS patients and 30 HCs. T1-weighted images were acquired and processed using CAT12 to perform vertexwise between-group comparisons of cortical thickness, gyrification, cortical complexity and sulcus depth with validated quality control protocols. We also performed SBM to analyze data from 19 patients with sleep disorders and 23 patients without sleep disorders.

Compared with HCs, MS patients had differences in large clusters of cortical regions, especially in postcentral, precentral, superior frontal and paracentral thickness. Differences were also observed in the parietal and occipital areas. Among MS patients with and without sleep disorders, altered cortical complexity and sulcal depth were observed.

This study strongly suggested that MS patients have cortical structural abnormalities compared with HCs, thus elucidating the underlying pathophysiology of motor and nonmotor symptoms in MS patients.

Parkinson’s disease (PD) is characterized by the inability of dopamine production from amino acids. Therefore, changes in amino acid profile in PD patients are very critical for understanding disease development. Determination of amino acid levels in PD patients with a cumulative approach may enlighten the disease pathophysiology.

A systematic search was performed until February 2023, resulting in 733 articles in PubMed, Web of Science and Scopus databases to evaluate the serum amino acid profile of PD patients. Relevant articles in English with mean/standard deviation values of serum amino acid levels of patients and their healthy controls were included in the meta-analysis.

Our results suggest that valine, proline, ornithine and homocysteine levels were increased, while aspartate, citrulline, lysine and serine levels were significantly decreased in PD patients compared to healthy controls. Homocysteine showed positive correlations with glutamate and ornithine levels. We also analyzed the disease stage parameters: Unified Parkinson’s Disease Rating Scale III (UPDRS III) score, Hoehn–Yahr Stage Score, disease duration and levodopa equivalent daily dose (LEDD) of patients. It was observed that LEDD has a negative correlation with arginine levels in patients. UPDRS III score is negatively correlated with phenylalanine levels, and it also tends to show a negative correlation with tyrosine levels. Disease duration tends to be negatively correlated with citrulline levels in PD patients.

This cumulative analysis shows evidence of the relation between the mechanisms underlying amino acid metabolism in PD, which may have a great impact on disease development and new therapeutic strategies.

There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data.

We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36. Data were collected from medical centers in Ontario, Alberta and Quebec between January 2000 and February 2021.

We analyzed 25 patients with rare SCA subtypes, with onset ages ranging from birth to 67 years. Infantile and juvenile-onset cases were observed in SCA5, SCA7, SCA14 and SCA34. Most patients presented with gait ataxia, with no significant differences across groups. Additional common features included saccadic abnormalities (22 of 25), dysarthria (19 of 25) and nystagmus (12 of 22, except in SCA7). Less common findings included dystonia (8 of 25), cognitive impairment (7 of 25), tremor (9 of 25) and parkinsonism (3 of 25).

Our study highlights the heterogeneity of rare SCA subtypes in Canada. Ongoing longitudinal analysis will improve the understanding, management and screening of these disorders.

Spinal CSF leak can cause disabling headaches and neurological symptoms. Lack of awareness, diagnostic delay and treatment inconsistencies affect the quality of CSF leak care globally. This is the first study aiming to identify and assess these challenges in Canada.

A cross-sectional online survey of Canadian patients with spinal CSF leak was designed in collaboration with Spinal CSF Leak Canada, including questions on demographics, headache condition, investigations, treatments, quality of life, financial consequences and out-of-country care.

The survey captured 103 respondents with confirmed spinal CSF leak diagnosis, of whom 56% were still suffering. The majority were female (80%), most being highly educated, with a mean age of 41.8 (SD: 10.37) years at the time of diagnosis. Inconsistencies in care resulted in variable durations for obtaining diagnosis and treatment. The majority of respondents (88%) had seen multiple physicians, and only 50% had seen a CSF leak specialist. Invasive imaging was not performed in 43%. CSF leak relapse after initial successful treatment occurred frequently (43%). The incidence of rebound intracranial hypertension was high (52.5%), and the treatment was difficult to access (77%). Out-of-country care was common (28%), and the impact on financial health was omnipresent (81.5%).

The survey demonstrates significant gaps in spinal CSF leak care in Canada, similar to global observations. Lack of awareness and access, delayed care, and inconsistencies in investigations and management are common. Spinal CSF leak significantly impacts patients’ physical, mental and financial well-being. Increased awareness, referral pathways and standardized treatment algorithms are key factors in optimizing patient care in Canada.