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Benign paroxysmal positional vertigo (BPPV) is the most common cause of positional vertigo. The term "benign" is consistent with a peripheral vestibular disorder that does not carry the potentially sinister sequelae of a central nervous system (CNS) cause. However, in 12% to 20% of cases, positional vertigo may be attributed to CNS pathology, including tumors of the cerebellum.Here, we present a series of 3 cases in which positional vertigo and nystagmus were the only presenting features in 2 cases of cerebellar tumor and 1 case of obstructive hydrocephalus.All patients underwent surgical intervention for removal of posterior fossa tumors or posterior fossa decompression for obstructive hydrocephalus. Following surgery, all 3 patients underwent a period of vestibular rehabilitation for postoperative motion sensitivity and balance impairment.Despite the continuing presence of central positioning nystagmus, all 3 patients recovered well, putatively with the aid of vestibular rehabilitation.The presence of central positioning nystagmus may be the sole presenting feature of serious neurological conditions such as posterior fossa tumor. It is recommended that a diagnosis of BPPV can only be made if Dix-Hallpike or supine roll maneuver elicits nystagmus that is consistent with BPPV. Any features of the nystagmus, which are not consistent with BPPV, should raise suspicion of central pathology, and warrant further investigation.Video Abstract available for more insights from the authors (see Video Abstract, Supplemental Digital Content 1, available at: http://links.lww.com/JNPT/A265).

The fragile X premutation (PM) allele contains a CGG expansion of 55-200 repeats in the FMR1 gene's promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study was to assess the relationships of regional white matter hyperintensities (wmhs) semi-quantitative scores, clinical status, motor (UPDRS, ICARS, Tremor) scales, and cognitive impairments, with FMR1-specific genetic changes, in a sample of 32 unselected male PM carriers aged 39-81 years. Half of these individuals were affected with FXTAS, while the non-FXTAS group comprised subcategories of non-affected individuals and individuals affected with non-syndromic changes. The dynamics of pathological processes at the cellular level relevant to the clinical status of PM carriers was investigated using the enzyme AMP-activated protein kinase (AMPK), which is a highly sensitive cellular stress-sensing alarm protein. This enzyme, as well as genetic markers - CGG repeat number and the levels of the FMR1 mRNA - were assessed in blood lymphoblasts. The results showed that the repeat distribution for FXTAS individuals peaked at 85-90 CGGs; non-FXTAS carriers were distributed within the lowest end of the PM repeat range, and non-syndromic carriers assumed an intermediate position. The size of the CGG expansion was significantly correlated, across all three categories, with infratentorial and total wmhs and with all motor scores, and the FMR1 mRNA levels with all the wmh scores, whilst AMPK activity showed considerable elevation in the non-FXTAS combined group, decreasing in the FXTAS group, proportionally to increasing severity of the wmhs and tremor/ataxia. We conclude that the size of the CGG expansion relates to the risk for FXTAS, to severity of infratentorial wmhs lesions, and to all three motor scale scores. FMR1 mRNA shows a strong association with the extent of wmhs, which is the most sensitive marker of the pathological process. However, the AMPK activity findings - suggestive of a role of this enzyme in the risk of FXTAS - need to be verified and expanded in future studies using larger samples and longitudinal assessment.

A 57-year-old woman presented with a 4-month history of positional vertigo provoked by rolling to the left in bed. The patient was treated unsuccessfully by 3 clinicians for benign paroxysmal positional vertigo. The Dix-Hallpike maneuvre to both sides revealed persistent upbeating nystagmus with no latency. Supine roll test revealed persistent apogeotropic nystagmus to the left and persistent upbeating torsional nystagmus to the right (video). Neurologic examination, including detailed cerebellar testing, was unremarkable. A cranial MRI revealed a 21 × 20 × 38 mm lobulated heterogeneously enhancing fourth ventricular tumor (figures 1 and 2). The patient underwent a midline posterior fossa craniotomy for resection of the lesion. The histopathologic examination of the specimen confirmed a WHO grade II ependymoma. In this case, vertigo and positional nystagmus were the sole presenting features of CNS pathology.

Meningiomas are the most common non-glial tumour of the central nervous system (CNS). There are a number of characteristic imaging features of meningiomas on magnetic resonance imaging (MRI) that allow an accurate diagnosis, however there are a number of atypical features that may be diagnostically challenging. Furthermore, a number of other neoplastic and non-neoplastic conditions may mimic meningiomas. This pictorial review discusses the typical and atypical MRI features of meningiomas and their mimics.There are several characteristic features of meningiomas on MRI that allow an accurate diagnosis Some meningiomas may display atypical imaging characteristics that may be diagnostically challenging Routine MRI sequences do not reliably distinguish between benign and malignant meningiomas Spectroscopy and diffusion tensor imaging may be useful in the diagnosis of malignant meningiomas A number of conditions may mimic meningiomas; however, they may have additional differentiating features.

Purpose: Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1(FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders. Methods: Detailed clinical assessment and genetic testing were performed in 14 male carriers of premutation and gray zone FMR1 alleles and in 24 non carriers identified in a sample of males with parkinsonism. Results: The premutation gray zone carriers presented with more severe symptoms than disease controls matched for age, diagnosis, disease duration, and treatment. The Parkinson disease (Unified Parkinson's Disease Rating Scale) motor score and the measures of cognitive decline (Mini-Mental State Examination and/or Addenbrooke's Cognitive Examination Final Revised Version Ascores) were significantly correlated with the size of the CGG repeat and the (elevated) levels of antisense FMR1 and Cytochrome C1 mRNAs in blood leukocytes. In addition, the carriers showed a significant depletion of the nicotinamide adenine dinucleotide, reduced dehydrogenase sub unit 1 mitochondrial gene in whole blood. Conclusion: Small CGG expansion FMR1 alleles (gray zone and lower end premutation) play a significant role in the development of the parkinsonian phenotype,possibly through the cytotoxic effect of elevated sense and/or antisense FMR1 transcripts involving mitochondrial dysfunction and leading to progressive neurodegeneration. Refereed/Peer-reviewed

Examples of white matter hyperintensities (wmh) on magnetic resonance images in a basis pontis are presented in two male carriers, each of whom carry a small CGG expansion fragile X mental retardation (FMR1) allele. One carried a premutation (PM) allele of 85 CGG repeats and the other, a gray zone (GZ) allele of 47 repeats. Both were originally diagnosed with idiopathic Parkinson's disease (iPD). Similar changes are also shown in one PM carrier of 99 repeats affected with mild tremor and imbalance, who was ascertained through a fragile X syndrome family. These examples draw attention to the occurrence of wmh in a basis pontis in the carriers of small CGG expansions presenting with tremor and ataxia. Moreover, the presence of this change in GZ, as well as PM, allele carriers originally diagnosed with iPD supports our earlier suggestion that both these alleles may contribute to the neurodegenerative changes in this disorder which, in the examples presented, have been reflected by wmh, most prominent in the cerebellar peduncles and/or pontine area.

Summary Intraventricular lesions of the central nervous system (CNS) can present a diagnostic challenge due to a range of differential diagnoses and radiological appearances. Both CT and MRI imaging findings, in combination with location and patient's age, can help limit the differentials. This pictorial essay presents the salient radiological features, location and demographics of the more common intraventricular lesions of the brain.

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) affects up to 30% of the population and signifies increased risk of liver fibrosis and cirrhosis, type 2 diabetes, and cardiovascular disease. Therapies are limited. Weight loss is of benefit but is difficult to maintain. We aimed at examining the effect of the Mediterranean diet (MD), a diet high in monounsaturated fatty acids, on steatosis and insulin sensitivity, using gold standard techniques. Methods: Twelve non-diabetic subjects (6 Females/6 Males) with biopsy-proven NAFLD were recruited for a randomised, crossover 6-week dietary intervention study. All subjects undertook both the MD and a control diet, a low fat-high carbohydrate diet (LF/HCD), in random order with a 6-week wash-out period in- between. Insulin sensitivity was determined with a 3-h hyperinsulinemic–euglycemic clamp study and hepatic steatosis was assessed with localized magnetic resonance 1 H spectroscopy ( 1 H-MRS). Results: At baseline, subjects were abdominally obese with elevated fasting concentrations of glucose, insulin, triglycerides, ALT, and GGT. Insulin sensitivity at baseline was low (M = 2.7 ± 1.0 mg/kg/min � 1 ). Mean weight loss was not different between the two diets (p = 0.22). There was a significant relative reduction in hepatic steatosis after the MD compared with the LF/ HCD: 39 ± 4% versus 7 ± 3%, as measured by 1 H-MRS (p = 0.012). Insulin sensitivity improved with the MD, whereas after the LF/ HCD there was no change (p = 0.03 between diets). Conclusions: Even without weight loss, MD reduces liver steatosis and improves insulin sensitivity in an insulin-resistant population with NAFLD, compared to current dietary advice. This diet should be further investigated in subjects with NAFLD. 2013 European Association for the Study of the Liver. Published

Paroxysmal visual manifestations may represent epileptic seizures arising from the occipital lobe. In coeliac disease (CD) bilateral occipital calcifications and seizure semiology consistent with an occipital origin have been described, primarily in Mediterranean countries. By reporting three adult patients from an Australian outpatient clinic with visual disturbances, occipital cerebral calcifications, and CD, this study seeks to emphasise that CD should be considered even when patients of non-Mediterranean origin present with these symptoms. Seizure types included simple partial, complex-partial, and secondarily generalised seizures. The seizure semiology consisted of visual disturbances; such as: blurred vision, loss of focus, seeing coloured dots, and brief stereotyped complex visual hallucinations like seeing unfamiliar faces or scenes. Symptoms of malabsorption were not always present. Neurological examination was unremarkable in two patients, impaired dexterity and mild hemiatrophy on the left was noted in one. Routine electroencephalography was unremarkable. In all cases, computed tomography demonstrated bilateral cortical calcification of the occipital-parietal regions. Magnetic resonance imaging showed no additional lesion. All patients had biopsy confirmed CD. Seizure control improved after treatment with gluten free diet and anticonvulsants. This report illustrates the association between seizures of occipital origin, cerebral calcifications, and CD even in patients not of Mediterranean origin.

A 70-year-old woman presented with confusion and hemianopia. A ring-enhancing lesion revealed on MRI (figure), thought to be suggestive of lymphoma or high-grade glioma, demonstrated demyelination on biopsy. Two further biopsies …

Tissue engineering is currently exploring new and exciting avenues for the repair of soft tissue and organ defects. Adipose tissue engineering using the tissue engineering chamber (TEC) model has yielded promising results in animals; however, to date, there have been no reports on the use of this device in humans. Five female post mastectomy patients ranging from 35 to 49 years old were recruited and a pedicled thoracodorsal artery perforator fat flap ranging from 6 to 50 ml was harvested, transposed onto the chest wall and covered by an acrylic perforated dome-shaped chamber ranging from 140 to 350 cm3. Magnetic resonance evaluation was performed at three and six months after chamber implantation. Chambers were removed at six months and samples were obtained for histological analysis. In one patient, newly formed tissue to a volume of 210 ml was generated inside the chamber. One patient was unable to complete the trial and the other three failed to develop significant enlargement of the original fat flap, which, at the time of chamber explantation, was encased in a thick fibrous capsule. Our study provides evidence that generation of large well-vascularized tissue engineered constructs using the TEC is feasible in humans., Highlights • Tissue engineering has the potential to offer exciting alternatives for the repair of soft tissues and organ development, • The tissue-engineering chamber has been shown to support tissue growth and the generation of specialized organs in animals. • Here we report on the use of this chamber in humans for the successful generation of new adipose tissue. Tissue engineering has traditionally relied on the combination of cells and scaffolds, which are subsequently implanted into the patient. However, such paradigm is limited to tissues that are thin enough to rely on diffusion for survival or that have a low metabolic rate. The tissue-engineering chamber represents an interesting approach to circumvent these obstacles, as it is able to support the growth of well-vascularized blocks of specialized tissues of varying kinds. This work presents the use of such chamber in five human patients, one of which generated a large three-dimensional well-vascularized piece of adipose tissue, probably the largest and thickest engineered tissue construct reported to date.