When the penny drops.

A 26-year-old woman presented after developing slurred speech and drooling overnight. She had a 6-month history of tiredness and poor concentration, and episodes of loss of consciousness accompanied by paraesthesia of her hands, feet and mouth. Occasionally, one arm would ‘hang in a strange way’. Her mother reported a preceding personality change with angry outbursts and anxiety, although these had largely subsided after starting antidepressants. Her only past history was a severe depressive episode in her teens and a difficult and occasionally abusive family life. There was no family history of neurological disease. On examination, she was alert and orientated. There was mild dysarthria but normal motor, sensory and coordination examination

Visual Function and Brief Cognitive Assessment for Multiple Sclerosis (BICAMS) in Optic Neuritis Clinically Isolated Syndrome Patients

BACKGROUND: In this study, we hypothesized that clinically isolated syndrome–optic neuritis patients may have disturbances in neuropsychological functions related to visual processes. METHODS: Forty-two patients with optic neuritis within 3 months from onset and 13 healthy controls were assessed at baseline and 6 months with MRI (brain volumes, lesion load, and optic radiation lesion volume) and optical coherence tomography (OCT) (peripapillary retinal nerve fiber layer [RNFL], ganglion cell and inner plexiform layers [GCIPLs], and inner nuclear layer). Patients underwent the brief cognitive assessment for multiple sclerosis, high-contrast and low-contrast letter acuity, and color vision. RESULTS: At baseline, patients had impaired visual function, had GCIPL thinning in both eyes, and performed below the normative average in the visual-related tests: Symbol Digit Modalities Test and Brief Visuospatial Memory Test-Revised (BVMT-R). Over time, improvement in visual function in the affected eye was predicted by baseline GCIPL (P = 0.015), RNFL decreased, and the BVMT-R improved (P = 0.001). Improvement in BVMT-R was associated with improvement in the high-contrast letter acuity of the affected eye (P = 0.03), independently of OCT and MRI metrics. CONCLUSION: Cognitive testing, assessed binocularly, of visuospatial processing is affected after unilateral optic neuritis and improves over time with visual recovery. This is not related to structural markers of the visual or central nervous system

Pisa syndrome in Parkinson's disease: a mobile or fixed deformity?

Although Pisa syndrome and scoliosis are sometimes used interchangeably to describe a laterally flexed postural deviation in Parkinson's disease (PD), the imaging findings of Pisa syndrome in PD have not been previously studied in detail

Prevalence of acute dizziness and vertigo in cortical stroke

BACKGROUND: In posterior circulation stroke, vertigo can be a presenting feature. However, whether isolated hemispheric strokes present with vertigo is less clear, despite a few single case-reports in the literature. Here we, a) explored the prevalence of vertigo/dizziness in acute stroke and, b) considered the cortical distribution of these lesions in relation to both the known vestibular cortex and evolution of these symptoms. METHODS: We conducted structured interviews in 173 consecutive unselected patients admitted to the hyperacute stroke unit at the University College London Hospitals. The interview was used to evaluate whether the patient was suffering from dizziness and/or vertigo before the onset of the stroke and at the time of the stroke (acute dizziness/vertigo), and the nature of these symptoms. RESULTS: 112 patients had subcortical lesions and 53 patients had cortical infarcts, of which 21 patients reported acute dizziness. Out of these 21, five patients reported rotational vertigo. 17 of the total 53 patients had lesions in known vestibular cortical areas distributed within the insular and parietal opercular cortices. CONCLUSIONS: The prevalence of vertigo in acute cortical strokes was 9%, with no single locus of lesion overlap. There is growing evidence supporting a lateralised vestibular cortex, with speculation that cortical strokes affecting the right hemisphere, are more likely to cause vestibular symptoms than left-hemispheric strokes. We observed a trend for this association, with the right hemisphere affected in four of five patients who reported spinning vertigo at the onset of the stroke

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy

OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy (AARS2-L), and highlight key differentiating features. METHODS: ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review. The phenotypic features were determined by combining published cases with those from our database. RESULTS: A combined total of 74 cases of ALSP and 10 cases of AARS2-L with neuroimaging data were identified. The mean age at onset was 42 years in ALSP and 26 years in AARS2-L. Cognitive and motor symptoms were the most common symptoms overall in both. Ovarian failure was exclusive to AARS2-L, present in all known female cases. Both ALSP and AARS2-L showed a confluent, asymmetric, predominantly frontoparietal, periventricular pattern of white matter disease with subcortical U-fiber sparing; pyramidal tract and corpus callosum involvement; and diffusion changes in the white matter which we have termed "deep white matter diffusion dots." Central atrophy and corpus callosal thinning were prominent in ALSP and disproportionately mild in AARS2-L when present. ALSP also occasionally showed ventricular abnormalities and calcifications in the frontal periventricular white matter, features not seen in AARS2-L. AARS2-L demonstrates white matter rarefaction which suppresses on fluid-attenuated inversion recovery MRI sequences, a feature not seen in ALSP. CONCLUSIONS: ALSP and AARS2-L share similar clinical, imaging, and pathologic characteristics with key differentiating features that we have highlighted