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We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort. LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAPgene that encodes for telethonin. We identified consecutive patients with LGMD2G/LGMD-R7-telethonin-related, diagnosed at the National Neuroscience Institute (NNI) and National University Hospital (NUH) between January 2000 and June 2021. At onset, three patients presented with proximal lower limb weakness, one patient presented with Achilles tendon contractures, and one patient presented with delayed gross motor milestones. At last follow up, three patients had a limb girdle pattern of muscle weakness and two had a facioscapular humeral pattern of weakness. Whole body muscle MRI performed for one patient with a facioscapular-humeral pattern of weakness showed a pattern of muscle atrophy similar to facioscapular-humeral dystrophy. One patient had histological features consistent with myofibrillar myopathy; electron microscopy confirmed the disruption of myofibrillar architecture. One patients also had reduced staining to telethonin antibody on immunohistochemistry. We report the unique clinical and histological features of a Southeast Asian cohort of five patients with LGMD2G/LGMD-R7-telethonin-related muscular dystrophy and further expand its clinical and histopathological spectrum.

Background and aims: Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disorder in a multiracial South-East Asian cohort.Methods: Patients with genetically proven ATTRv amyloidosis were identified over a 13-year period (2007–2020) at the National Neuroscience Institute, Singapore. Clinical, laboratory, genotypic and electrophysiological features were retrospectively reviewed.Results: 29 patients comprising Chinese, Malay, Burmese, Vietnamese and Indonesians with ATTRv amyloidosis were identified. Somatic neuropathy was the most common initial presentation, followed by carpal tunnel syndrome, autonomic dysfunction and cardiac dysfunction. ATTR-A97S (p.Ala117Ser) was the most common variant found in 14 patients, constituting 66.7%of ethnic Chinese patients and 48.3%of the entire cohort. Five patients had early-onset disease (age?

Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disorder in a multiracial South-East Asian cohort. Patients with genetically proven ATTRv amyloidosis were identified over a 13-year period (2007–2020) at the National Neuroscience Institute, Singapore. Clinical, laboratory, genotypic and electrophysiological features were retrospectively reviewed. 29 patients comprising Chinese, Malay, Burmese, Vietnamese and Indonesians with ATTRv amyloidosis were identified. Somatic neuropathy was the most common initial presentation, followed by carpal tunnel syndrome, autonomic dysfunction and cardiac dysfunction. ATTR-A97S (p.Ala117Ser) was the most common variant found in 14 patients, constituting 66.7%of ethnic Chinese patients and 48.3%of the entire cohort. Five patients had early-onset disease (age <  50 years) with the following variants: ATTR-V30M (p.Val50Met), ATTR-G47A (p.Gly67Ala), ATTR-S50I (p.Ser70Ile) and ATTR-A97S (p.Ala117Ser); one patient with ATTR-A97S (p.Ala117Ser) had isolated unilateral carpal tunnel syndrome with amyloid deposits identified on histological examination of the transverse carpal ligament. All early-onset patients had a positive parental history; two patients, with ATTR-S50I (p.Ser70Ile) and ATTR-Ala97Ser (p.Ala117Ser) respectively, demonstrated anticipation with mother-to-daughter inheritance. Amongst the 24 patients with late-onset disease (age≥50 years), two patients had novel variants, ATTR-G66D (p.Glu86Asp) and ATTR-A81V (p.Ala101Val) that were confirmed to be pathogenic based on the histological identification of transthyretin amyloid. Other identified variants included ATTR-V30M (p.Val50Met), ATTR-R34T (p.Arg54Thr), ATTR-S50I (p.Ser70Ile), ATTR-H88R (p.His108Arg) and ATTR-A97S (p.Ala117Ser). Our study further expands the genotypic and phenotypic knowledge regarding ATTRv amyloidosis.

Sulcal arteries perfuse the anterior two-thirds of the spinal cord, and spinal cord infarction as a result of sulcal artery occlusion is rare. Most reported cases are associated with vertebral artery dissection, and commonly involve the cervical spinal cord. A 74-year-old man presented with sudden onset weakness and numbness after a brief bout of abdominal pain. Further investigations concluded that this was sulcal artery syndrome. We report a case of sulcal artery syndrome affecting the thoracic spinal cord presenting as Brown–Sequard syndrome. Sulcal artery syndrome usually has good prognoses, unlike anterior spinal artery infarction.

Hypothermia is neuroprotective in ischemic stroke models. The influence of baseline body temperature on outcomes after thrombolytic therapy is unclear. We examined outcomes after alteplase treatment across baseline body temperature for patients with ischemic stroke in data held within the Virtual International Stroke Trials Archive (VISTA; 1998 to 2007).

Transient ischemic attack and minor stroke are associated with high ischemic recurrence in the first week. We prospectively studied the correlation between baseline diffusionperfusion deficits and development of new ischemic lesions.

The Oxfordshire Community Stroke Project (OCSP) is a common clinical stroke classification tool. We evaluated the accuracy of OCSP classification with a prospective magnetic resonance imaging (MRI) study.

Diffusion-weighted MRI (DWI) demonstrates ischemic tissue with high sensitivity. Although low cerebral blood volume (CBV) is also used as a marker for infarction, the quantitative relationship between diffusion abnormalities and CBV is unknown. We tested the hypothesis that CBV would decrease proportionally to the apparent diffusion coefficient in patients with acute stroke and thus could be used as a surrogate parameter for diffusion restriction.

Experimental studies have shown that hyperthermia is a determinant of poor outcome after ischemic stroke. Clinical studies evaluating the effect of temperature on poststroke outcome have, however, been limited by small sample sizes. We sought to evaluate the effect of temperature and timing of hyperthermia on outcome after ischemic stroke.

Stroke remains one of the leading causes of morbidity and mortality worldwide. Sexual differences in stroke have been recognized, though the mechanisms remain unclear. Women have a unique risk factor profile, especially so in the reproductively active age group. Exposure to oral contraceptives, hormone replacement therapy and a higher incidence of migraine and vasculitic disorders in women suggest that stroke would be common in women. Yet, the incidence of stroke remains higher in men across all ages, indicating a protective role of sex hormones. The differences in incidence and prevalence of stroke decreases as women age, confirming that hormones play a pivotal role in terms of normal physiology, disease and recovery. Recent evidence also points to sex based differences in response to therapy, in terms of acute management and prevention. Gender based differences in accessibility and provision of health care facilities add to the observed differences in terms of stroke outcome, though here women seem to fare worse than men. This review summarizes the observed sex differences in stroke, possible hormonal mechanisms that may explain the same and outlines recent patents and scope for future research in this field.

Stroke remains one of the leading causes of morbidity and mortality worldwide. Sexual differences in stroke have been recognized, though the mechanisms remain unclear. Women have a unique risk factor profile, especially so in the reproductively active age group. Exposure to oral contraceptives, hormone replacement therapy and a higher incidence of migraine and vasculitic disorders in women suggest that stroke would be common in women. Yet, the incidence of stroke remains higher in men across all ages, indicating a protective role of sex hormones. The differences in incidence and prevalence of stroke decreases as women age, confirming that hormones play a pivotal role in terms of normal physiology, disease and recovery. Recent evidence also points to sex based differences in response to therapy, in terms of acute management and prevention. Gender based differences in accessibility and provision of health care facilities add to the observed differences in terms of stroke outcome, though here women seem to fare worse than men. This review summarizes the observed sex differences in stroke, possible hormonal mechanisms that may explain the same and outlines recent patents and scope for future research in this field.

The prevalence of silent brain infarcts varies from 8 to 28 in the general elderly population. Silent brain infarcts are associated with increased risk of subsequent stroke and cognitive dysfunction. By definition, silent strokes lack clinically overt stroke-like symptoms and fail to come to clinical attention; however, impaired recall of symptoms may be a potential confounder. Our aim is to report a series of patients with incidentally detected acute and subacute strokes and examine whether they were truly asymptomatic.