Protein aggregate myopathies (PAM) are an emerging group of muscle diseases characterized by structural abnormalities. Protein aggregate myopathies are marked by the aggregation of intrinsic proteins within muscle fibers and fall into four major groups or conditions: (1) desmin-related myopathies (DRM) that include desminopathies, a-B crystallinopathies, selenoproteinopathies caused by mutations in the, a-B crystallin and selenoprotein N1 genes, (2) hereditary inclusion body myopathies, several of which have been linked to different chromosomal gene loci, but with as yet unidentified protein product, (3) actinopathies marked by mutations in the sarcomeric ACTA1 gene, and (4) myosinopathy marked by a mutation in the MYH-7 gene. While PAM forms 1 and 2 are probably based on impaired extralysosomal protein degradation, resulting in the accumulation of numerous and diverse proteins (in familial types in addition to respective mutant proteins), PAM forms 3 and 4 may represent anabolic or developmental defects because of preservation of sarcomeres outside of the actin and myosin aggregates and dearth or absence of other proteins in these actin or myosin aggregates, respectively. The pathogenetic principles governing protein aggregation within muscle fibers and subsequent structural sarcomeres are still largely unknown in both the putative catabolic and anabolic forms of PAM. Presence of inclusions and their protein composition in other congenital myopathies such as reducing bodies, cylindrical spirals, tubular aggregates and others await clarification. The hitherto described PAMs were first identified by immunohistochemistry of proteins and subsequently by molecular analysis of their genes.

Objective: We present our experience with treating four cases with ossified posterior longitudinal ligaments (OPLL) causing cervical cord compression by limited oblique and strategic corpectomy. Materials and results: Four patients with cervical OPLL were treated by the discussed technique during the period of October 2000 to January 2005. The ages of the patients ranged from 46 to 72 years. All patients presented with symptoms of progressively increasing myelopathy. Two patients had four level OPLL and two patients had two level OPLL. Surgery involved anterior cervical exposure and partial oblique corpectomy, which was essentially an extended midline and lateral undercutting of the body. The procedure provided a wide exposure for resection of the OPLL. No metal instrumentation or any other kind of fixation procedure was simultaneously carried out and there was no need for postoperative cervical immobilization. During the period of follow up that ranged from 6 month to 5 years (mean: 33 months) all the four patients have shown sustained clinical improvement. Neuroimaging studies confirmed satisfactory anatomical cervical cord decompression in all patients. Conclusions: The technique of oblique and strategic corpectomy provided a wide exposure for resection of the OPLL and preserved the stability of the region.

Aims : To determine the surgical approach in patients with multisegmental (four or more segments) OPLL of the cervical spine. Methods and Materials : Data of 27 patients who had undergone either an anterior (corpectomy with excision of OPLL and interbody fusion=14 patients) or posterior approach (laminectomy=12, laminoplasty=1 patient) for the multisegmental cervical OPLL was analyzed retrospectively. The patients in each group were statistically similar in respect to preoperative factors such as age, duration of symptoms, preoperative modified Japanese orthopedic association score, OPLL thickness, effective canal diameter, and antero-posterior cord compression ratio. The clinical outcome was assessed by the Harsh grading system and recovery rate was assessed by Hirabayashi method. Results : There was no statistical difference in the outcome, and recovery rate. Nine patients developed complications after anterior approach in contrast to one after posterior approach. Conclusions : In patients with multisegmental cervical OPLL, there was no significant difference in the short-term recovery rate and outcome between two groups. The immediate postoperative complications were less in patients who had undergone posterior approach. From our analysis, it appears that the posterior approach is probably the preferred method of treatment in a multisegmental OPLL in absence of preoperative kyphosis.

Aims : Three-dimensional reconstruction of intracranial vessels is of interest for evaluation of aneurysms. This study determined diagnostic difference of three-dimensional digital subtraction angiography (3D-DSA, volume-rendering image) versus 2D-DSA for evaluating ruptured intracranial aneurysms, particularly focusing on the size of aneurysms as depicted in both images. Settings and Design : Sixty-nine patients underwent 3D-DSA and 2D-DSA. The relative size of an aneurysm, which is the ratio of the maximal diameter of an aneurysm to the diameter of a major vessel, was compared between imaging techniques. In addition, relative sizes of smaller aneurysms (<5 mm) were compared with those of larger aneurysms (>10 mm). Statistical analysis used : For comparison of aneurysm size and location of aneurysm, statistical analysis was performed with the Yates chi square test; statistical significance was set with a P value of less than 0.05. Results: Sixty-three (73.3%) of the 86 total aneurysms were bigger when measured with 3D-DSA versus 2D-DSA. When measured with 3D-DSA, 28 (84.8%) of the 33 smaller aneurysms were bigger, and 50% of the larger aneurysms were bigger versus measurements of 2D-DSA images ( P <0.05). In ACA and ICA territories, which tended to have smaller mean aneurysmal size, relative size of the aneurysm was bigger when measured with 3D-DSA (81.5% and 81.0%, respectively). In MCA, where the mean aneurysmal size was the largest, relative size of aneurysms was bigger when measured with 3D-DSA in 15 cases (53.6%, P <0.05). In the posterior circulation, aneurysm size was similar between 3D-DSA and 2D-DSA measurements. Conclusions : 3D-DSA, especially volume-rendering images, tends to depict ruptured intracranial aneurysms bigger than 2D-DSA. This is particularly true with cerebral aneurysms that are <5 mm in size and are located in the anterior circulation, especially ICA and ACA territories.

Background: Dementia due to potentially reversible etiologies is an important group of dementias to be identified not only because of the number of such Patients encountered but also due to the potential for substantial improvement with treatment. Aims : To prospectively investigate the frequency and causes of dementias with potentially reversible etiologies; to examine the clinical features of this subgroup with a view to identifying a signature profile and to determine if this potential reversibility translates into actual reversibility with appropriate treatment. Setting and design : A prospective longitudinal study of patients with dementia presenting to the outpatient services of a tertiary referral hospital. Methods : All Patients above 40 years referred for evaluation of cognitive complaints were serially enrolled and underwent clinical examination, various laboratory tests and neuroimaging. Patients were followed-up for one year. Statistical analysis : One way analysis of variance for continuous variables followed by post hoc comparisons using Scheffe's procedure. Results: A total of 129 patients met Diagnostic and Statistical Manual of Mental Disorders edition 4 (DSM IV) criteria for dementia and qualified for inclusion into the study. Twenty-four patients (18%), all with moderately severe cognitive [mean mini mental state examination (MMSE) score ± SD = 17.9 ± 4.8] and neuropsychiatric [mean neuropsychiatric inventory (NPI) score ± SD = 30.7 ± 8.7] dysfunction were diagnosed to have reversible causes - neuroinfections in 11 patients, normal pressure hydrocephalus in 8 patients and vitamin B12 deficiency in 5 patients. The majority of these patients had gait and urinary dysfunction reminiscent of subcortical dementias. These reversible causes were clinically suspected in only 58% of patients. In 20/24 patients in whom follow up was possible mean MMSE score had improved to 22.2 and mean NPI score had improved to 8.0, following 6 months of treatment. Conclusions : Reversible causes, especially neuroinfections and vitamin B12 deficiency accounted for 18% all dementias in this study. The majority of these conditions was not clinically suspected though resulting in moderate to severe cognitive and psychiatric dysfunction. Most of these patients had a subcortical pattern of dementia and showed substantial improvement with treatment.

Background : Hyperhomocysteinemia has been proposed as an important risk factor for ischemic stroke worldwide, but data available from the Indian subcontinent is scarce. Aim : To study homocysteine levels in patients with ischemic stroke and compare it with age- and sex-matched controls. Settings and Design: Case-control prospective study. Materials and Methods: Fifty-seven patients with ischemic stroke and 30 controls were recruited for the study. They were subdivided into two subgroups (<40 years and >40 years of age) and plasma fasting total homocysteine (tHcy) levels were measured. Statistical analysis used: Student's 't' test and chi-square test. Results: The tHcy were significantly high in patients with stroke, compared to controls (9.91 ± 2.25 vs 8.00 ± 2.74 mmol/l; P < 0.001). Significantly high levels were seen in both male patients compared to controls (10.24 ± 2.34 vs 8.45 ± 2.72 mmol/l; P = 0.01) and female patients compared to controls (9.08 ± 1.81 vs 6.79 ± 2.60 mmol/l; P = 0.04). The tHcy levels were significantly high in patients with hypertension compared to normotensive patients (10.96 vs 9.49 mmol/l; P = 0.01) and smokers compared to nonsmokers (11.17 vs 9.33 mmol/l; P = 0.01). Conclusions : Hyperhomo-cysteinemia emerged as an important independent risk factor for ischemic stroke. A strong positive correlation was also observed between hypertension, smoking, and high-tHcy levels in the present study.

Background: Helicobacter pylori infection has been associated epidemiologically and pathogenetically with atherosclerosis of coronary arteries but data regarding chronic infection with this organism and cerebral noncardioembolic ischemia are not clear. Aims and Design: In this study we have investigated the association of this pathogen and noncardioembolic ischemic stroke under a case-control study. Methods and Material: Samples are taken among patients who were admitted in our hospital due to their first ischemic stroke during 2003-04. Patients with a known cardiac origin for cerebral emboli and those with major risk factors of ischemic strokes were excluded. Controls were selected from the study population and matched for age, sex, and area of residence. IgG and IgA antibodies to H. pylori were measured by enzyme immunoassay. Statistical analysis : The t and c - tests and Odds ratio were applied to examine variables differences. Results: A total of 91 cases (43 women, 48 men) and 80 controls (40 women, 40 men) were included for analysis ( P = 0.8). The mean age of cases was 64.3±10 years and of controls was 61.73 ± 10.3 years (P = 0.1, CI = 95%). There was seropositivity for H. pylori (IgG or IgA) in 66 patients (72.5%) but they were positive only in 45 controls (56.3%) ( P =0.04). Mean of serum IgG levels was significantly high in stroke group ( P <0.005) but the IgA antibody elevation against H. pylori did not show any risk. Conclusions: Our case-control study provides evidence of an association between the immune response to H. pylori , a marker of prior infection with this organism and noncardioembolic ischemic stroke.

Objective: To study the prevalence, clinical and molecular genetic characteristics of cerebellar ataxia in an ethnic Tamil community in India. Methods: An epidemiological study of cerebellar ataxia was done in two villages in the Indian state of Tamilnadu where its prevalence was observed to be high. All the people were screened and the clinical characteristics of those with ataxia were recorded. Genetic analysis was done in those with ataxia and in two asymptomatic control groups - group I belonging to the affected community and group II belonging to the unaffected community. The clinical and genetic results are correlated. Measures to help the community are suggested. Results: The total population of the two villages was 378. Among them 345 belonged to Vanniyakula Kshatriyar community and 33 to another. Cerebellar ataxia was found in 25 individuals belonging only to the former community (7.2%). The mean age of onset was 39.8 years and the salient features were ataxic gait (100%), dysarthria (100%), pyramidal signs (72%), slow saccades (48%) and bleeding diathesis (12%). Genetic studies were done in 17 of the study group. All showed pathological expansion of CAG repeats above 40, in chromosome 6p, diagnostic of SCA1. 7 of the 18 in the control group (I) and none in control group (II) had CAG repeats above 40. Conclusion: The prevalence of SCA1 is high (7.2%) in this ethnic Tamil community with a large asymptomatic group waiting to manifest. The symptomatic individuals need social support and rehabilitation. Appropriate counseling, prenatal evaluation and therapy will prevent the spread of disease to the next generation.

Background: Nuclear factor kappa B (NF-kB), proinflammatory cytokines and intercellular adhesion molecule 1 (ICAM-1) are frequently upregulated in the injured brain after traumatic brain injury (TBI). However, the temporal pattern of upregulation is not well defined. Aims: The current study was undertaken to investigate the temporal profile of the expression of NF-kB, proinflammatory cytokines and ICAM-1 in the injured brain after cortical contusion trauma of the rat brain. Settings and Design: A rat model of cortical contusion was produced by a free-falling weight on the exposed dura of right parietal lobe. The rats were randomly divided into control group and TBI groups at hours 3, 12, 24 and 72, and on day 7. Material and Methods: NF-kB binding activity in the surrounding brain of injured area was studied by electrophoretic mobility shift assay (EMSA). The levels of TNF-a and IL-6 were detected using ELISA and ICAM-1 expression studied by immunohistochemistry. Statistical analysis: The data were analyzed by one-way ANOVA followed by Student-Newman-Keuls post hoc test. Relation between variables was analyzed using bivariate correlation with two-tailed test. Results: Compared with that of control group, NF-kB binding activity in the injured brain was significantly increased through 12 h and 7 days postinjury, with the maximum at 72 h. The concentrations of TNF-a and IL-6 in the injured brain were significantly increased from 3 h to 7 days and maximal at 24 h postinjury. The number of ICAM-1 immunostained microvessels was significantly increased in the injured brain from 24 h to 7 days postinjury, with its peak at 72 h. Concomitant upregulation of TNF-a, IL-6, ICAM-1 and the cytokine mediators NF-kB in the injured brain was observed in the injured brain after cortical contusion, and there was a highly positive relation among these variables. Conclusions: Cortical contusion trauma could induce a concomitant and persistent upregulation of NF-kB binding activity, TNF-a, IL-6 and ICAM-1 in the injured rat brain which might play a central role in the injury-induced immune response of brain.

Background: Neuronal plasticity is expected to be different at different ages and adaptive changes developing after peripheral facial palsy (PFP) may provide a clue in this respect. Aims: To investigate the difference in the reorganization developing after facial nerve damage between patients who developed PFP at childhood-youth and middle-old age. Patients and methods: Twenty-two patients were divided into two groups according to the age-at-onset of PFP; young (PFP 1), and elderly (PFP 2). Two age-matched control groups (C 1 and C 2) comprised of 32 healthy subjects were included in the study. The latency, R2 area, and recovery of the R2 area of the blink reflex were investigated. Statistical analysis : anova and Bonferroni tests were used. Results: The R2 areas were significantly greater on the intact side of the PFP 1 group as compared to that in the control group ( P =0.012). The recovery of R2 component was significantly enhanced on the symptomatic ( P =0.027), and intact ( P =0.041) sides in PFP 1 as compared to that in the C 2 group at the stimulus interval of 600 ms. Significant enhanced recovery was noted at 200 ms stimulus interval on the symptomatic side of the two PFP groups (PFP 1, P =0.05 and PFP 2, P =0.025) and on the intact side of the PFP 1 group ( P =0.035) as compared to that in the control groups. Conclusion : Young age-at-onset of PFP is associated with more prominent excitability changes developing at the neuronal and interneuronal level.

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA (mtDNA). Herein we report a case of MELAS, whose second stroke-like episode was provoked by chickenpox. A point mutation at nucleotide (nt) 3243 in mtDNA supported the diagnosis of MELAS in this case. History of myopathy, the presence of lesions that did not conform to accepted distributions of vascular territories on cranial magnetic resonance imaging (MRI), normal result of cranial magnetic resonance angiography, hyperintensity on diffusion weighted MRI and apparent diffusion coefficient mapping indicating the presence of vasogenic edema in the fresh stroke-like lesion, and mitochondrial DNA analysis helped to exclude the diagnosis of ischemic cerebral infarction which can also be induced by chickenpox.

This is report on four cases of giant pituitary tumors that developed postoperative pituitary apoplexy after they had undergone a partial tumor resection. Three patients had undergone surgery by a transsphenoid route and one patient underwent surgery by transcranial route. Postoperative CT scan showed hemorrhagic expansion of residual tumor mass. All the four patients were re-explored transcranially and hemorrhagic swelling of the tumor was observed. In three cases, the tumor had swollen to a size greater than twice the original tumor. All the four patients had a fatal outcome.

Glioblastoma multiforme (GBM) Patients generally have a dismal prognosis, with median survival of 10-12 months. GBM with long-term survival (LTS) of ³ 5 years is rare, and no definite markers indicating better prognosis have been identified till date. The present study was undertaken to evaluate GBMs with LTS in order to identify additional correlates associated with favourable outcome. The cases were evaluated for relevant clinicopathological data, proliferation index and expression of tumortumour suppressor gene ( p53 ), cyclin-dependant kinase-inhibitors ( p27 and p16 ) and epidermal growth factor receptor (EGFR) proteins. Six cases of GBM with LTS with an average survival of 9 years (range 5-15 years) were identified. All were young patients with mean age of 27 years (range 8-45 years). Histology of three cases was consistent with conventional GBM, while two showed prominent oligodendroglial component admixed with GBM areas. One was a giant cell GBM, which progressed to gliosarcoma on recurrence. The mean MIB-1LI was 12% (range 6-20%). p53 was immunopositive in 4 out of 5 cases. EGFR and p27 were immunonegative in all, whereas p16 was immunonegative in 3 out of 5 cases. Currently, in the absence of specific molecular and genetic markers, GBM in young patients should be meticulously evaluated for foci of oligodendroglial component and/or giant cell elements, in addition to proliferative index and p53 expression, since these probably have prognostic connotations, as evident in this study. The role of p16 and p27 however needs better definition with study of more number of cases.

Recurrent stupor in children is an uncommon clinical problem with a wide differential diagnosis; inherited metabolic disorders account for a vast majority. We report a 9-year-old girl with recurrent episodes of stupor. Initial episode was treated as viral encephalitis and the second episode was managed as non-convulsive status epilepticus. Hyperammonemia was detected in the last episode. Metabolic work-up after dietary protein challenge revealed classical biochemical features of lysinuric protein intolerance. She was managed with protein-restricted diet, which resulted in marked neurological improvement. LPI is a rare inherited metabolic disorder due to membrane transport defect of cationic amino acids.

The dematiaceous fungi are a group of pigmented hyphal yeasts best known as agents of chronic skin and subcutaneous infections. Extracutaneous disease is exceptional. We report herewith a case of necrotizing granuloma caused by one member of the group, Cladophialophora bantiana . This organism is fully capable of invading the nervous system of apparently immunocompetent hosts and in many cases does so in the absence of demonstrable foci of extraneural infection. It has also been reported to be the most frequently found causative organism in the central nervous system phaeohyphomycosis. C. bantiana has several older names in the literature including Clodosporium trichoides , C. bantianum and Xylohypha bantiana . Patients require treatment with a combination of medical and surgical therapy. Rarity of the case and the usefulness of a simple diagnostic method such as smear cytology, which lead us to the diagnosis, is highlighted by the report.

We are presenting magnetic resonance spectroscopy (MRS) findings of a known case of hydatid cyst operated twice in the past. A 22-years-old male patient had presented with recurrent symptoms of generalized seizures and raised intracranial tension. MRI with MRS of the lesion was performed that showed a recurrent loculated cystic lesion in right parieto-occipital lobe. MRS through the lesion was performed using repetition time (TR) of 1500 ms and time to echo (TE) of 135 ms using 2 x 2 x 2 cm voxel, from the margin of the lesion. MRS showed mildly elevated choline (Cho), depressed creatine (Cr) and N-acetyl aspartate (NAA), a large peak of lactate, pyruvate and acetate peaks.

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

Cortical lesion might elicit restricted acral sensory deficit but a disparity of topographies in cheiro-oral-pedal syndrome is very rare. We report the first case of cheiro-oral-pedal syndrome due to a contralateral parasagittal hemangioma involving the supplement sensory area in parietal lobe. This unusual link between neuroanatomy and neurological feature is discussed.

We report about a 7-year-old female child with cyanotic heart disease whose thalamic abscess was successfully treated by endoscope-assisted abscess drainage. Endoscopic aspiration of thalamic abscess appears to be a safe and effective method of treatment for deep-seated abscesses, as direct visualization of the abscess cavity is possible and the completeness of evacuation can be assessed.

Accessory nerve schwannoma are extremely rare. The preoperative consideration of this diagnosis will lead to appropriate surgical management with preservation of motor nerve function. In this article we review the literature and report a case treated successfully based on preoperative MRI findings.

The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasound raised the possibility of TS based on the detection of multiple cardiac rhabdomyomas. Fetal MRI, subsequently performed, showed the presence of cortical tubers and subependymal nodules establishing the diagnosis. Fetal MRI in the appropriate clinical setting can be potentially invaluable and can have important prognostic implications.

Lumbo-costo-vertebral syndrome, which includes abnormalities of the vertebral bodies, ribs and trunk musculature, is very rare and only few cases have been reported. We report a case of 18-month-old female child with absent ribs, hemivertebrae, superior lumbar hernia (features of lumbo-costo-vertebral syndrome) and posterior spinal dysraphism, which to our knowledge is the first case in the English literature with such a combination of defects. Embryology and management of the case is discussed.

Study design : Direct removal of an ossified mass via an anterior approach carries good decompression, to one- or two-level ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. Ossification occasionally involves not only the posterior longitudinal ligament (PLL) but also the underlying dura mater. Defect of the dura mater by resection of the dural ossification (DO) can cause cerebrospinal fluid leakage or neural injury. The technique of resection of OPLL with floating of DO provides satisfactory decompression and avoids dural defect or neural injury in OPLL associated with DO. Methods: Four patients developed cervical myelopathy. Radiological examination revealed cord compression due to OPLL associated with DO. Results: All patients underwent anterior procedures. After the necessary discectomies and corpectomies, OPLL was resected using a high-speed drill with a 4-mm steel burr and then with a 4-mm diamond burr. When the OPLL became paper-thin, it was separated from the dura mater using a microdissector and a Kerrison rongeur. There was a thin layer of the nonossified degenerated PLL between the residual OPLL and DO. Meticulous dissection of the residual OPLL over the DO was performed without removing the DO at this layer. Fixation was performed with a titanium cylindrical cage. Conclusion : This technical note describes the successful decompression of the spinal cord by removing OPLL only, and avoidance of dural defect or neural injury in cases of OPLL associated with DO.