Thrombolysis with Tenecteplase for Basilar Artery Occlusion in Neuro and Allied Clinic: Importance of Clinical Assessment and Drip and Ship Model in Nepal.

Tenecteplase, a new thrombolytic drug, is now widely recommended and used for treating acute ischemic stroke, and timely thrombolysis within 4.5 hours is crucial for better outcomes. However, due to limited stroke awareness, transportation difficulties, and inadequate access to experts and comprehensive stroke care centers, fewer than 15% of stroke patients in Nepal receive thrombolytic therapy. The "drip and ship" model, which involves starting thrombolysis at a noncomprehensive stroke care center and transferring the patient to another center for further care, can effectively overcome these obstacles, provided trained personnel are available at non-comprehensive stroke care centers. We report a case of acute ischemic stroke treated with thrombolysis within 4.5 hours of symptom onset at a non-comprehensive stroke care center, followed by transfer to another center for ongoing care, demonstrating the feasibility and potential benefits of the drip and ship model in resource-limited settings.

Microplastics in environment: global concern, challenges, and controlling measures.

Plastic pollution in various forms has emerged as the most severe environmental threat. Small plastic chunks, such as microplastics and nanoplastics derived from primary and secondary sources, are a major concern worldwide due to their adverse effects on the environment and public health. Several years have been spent developing robust spectroscopic techniques that should be considered top-notch; however, researchers are still trying to find efficient and straightforward methods for the analysis of microplastics but have yet to develop a viable solution. Because of the small size of these degraded plastics, they have been found in various species, from human brains to blood and digestive systems. Several pollution-controlling methods have been tested in recent years, and these methods are prominent and need to be developed. Bacterial degradation, sunlight-driven photocatalyst, fuels, and biodegradable plastics could be game-changers in future research on plastic pollution control. However, recent fledgling steps in controlling methods appear insufficient due to widespread contamination. As a result, proper regulation of environmental microplastics is a significant challenge, and the most equitable way to manage plastic pollution. Therefore, this paper discusses the current state of microplastics, some novel and well-known identification techniques, strategies for overcoming microplastic effects, and needed solutions to mitigate this planetary pollution. This review article, we believe, will fill a void in the field of plastic identification and pollution mitigation research.

Comparative Study of Common Bile Duct Diameter between Normal and Post Cholecystectomy Cases Using Trans-abdominal Ultrasonography.

Background Increase in common bile duct diameter can occur because of different causes. Post cholecystectomy status is one of the potential causes. Many studies done in the past show different results and are hence inconclusive. Objective To see if the post cholecystectomy cases would have a statistically significant change in common bile duct diameter. Method We carried out a study in 100 cases (46 post cholecystectomy cases and 54 cases with intact gall bladder, measuring their common bile duct diameters and performing an unpaired t test to see if the mean in common bile duct among these two groups of cases was statistically significant. Result One hundred cases, 46 post cholecystectomy cases and 54 cases with intact gall bladder were included in our study. An unpaired t-test was used to compare the common bile duct diameters in these two groups. Our findings showed that the difference in common bile duct diameter between the cases with intact gall bladder and those who underwent cholecystectomy was significant for both one tailed and two tailed studies (p < 0.001). Hence, it can be stated that post cholecystectomy status increases the common bile duct diameter. Conclusion An increased Common bile duct diameter in post cholecystectomy case could be because of the post cholecystectomy status itself and not due to some other obstructive cause. So careful decision is necessary before subjecting the patient to further invasive/non-invasive investigations and treatments.

Morphometric Analysis of Posterior Fossa and Foramen Magnum among Pediatric Age Group 6 to 16 Years.

Background Configuration and size of the foramen magnum and posterior cranial fossa plays an important role in the pathophysiology of various disorders like Chiari malformations, basilar invagination etc. Thus, a fundamental knowledge of normal anatomy of this region is important to the clinician for diagnosis and treatment. However, we couldn't find any anatomical study related to the concerned topic among the pediatric population aged 6 to 16 years in Nepal to the best of our knowledge. Objective To attain the baseline results (volume of bony part of posterior cranial fossa and the surface area of foramen magnum) that will help in the better diagnosis, classification, and treatment of diseases related to posterior fossa and craniovertebral junction and serve as a future reference defining an anatomic range in our region. Method This is a retrospective prospective observational study conducted from 1st February 2021 to 31st January 2022 at Dhulikhel Hospital, Kathmandu University Hospital, Kavrepalanchowk, Nepal. We used convenient sampling technique to fulfil our sample size. We considered 68 patients, who got recruited either from our emergency and OPD departments and were fulfilling our criteria of inclusion. Upon the recruitment, 68 consecutive head CT scan of pediatric patients with normal reports (without any bony or soft-tissue abnormality) were studied. Volume of the posterior fossa was calculated with the help of inbuilt "advanced work station - 3D volume calculator" program in 128 slices - SOMATOM PERSPECTIVE CT Scanner from Siemens, Germany. The area of the foramen magnum was calculated using formula πr2 , where r is average radius calculated from obtained antero-posterior and transverse diameter. Result The age of the patients ranged between 6 and 16 years with the mean age of 10.56 ± 3.38 years with male to female distribution of 1: 1.125. The mean volume of the posterior fossa was 165.61 ± 8.52 mm3 . The mean AP diameter, transverse diameter, and the surface area of foramen magnum were 3.31 ± 0.12 mm, 2.72 ± 0.12 mm, and 28.60 ± 0.09 mm2 respectively. Conclusion Normal ranges of volume of posterior cranial fossa and various dimensions and surface area of foramen magnum of pediatric population were determined using CT scans, which could serve as future reference in Nepal.

Role of Magnetic Resonance Cholangiopancreatography in the Evaluation of Obstructive Jaundice.

Background Magnetic Resonance Cholangiopancreatography is a reliable and highly sensitive imaging modality in the diagnosis of Obstructive jaundice. Objective To evaluate the diagnostic accuracy of Magnetic Resonance Cholangiopancreatography as compared to Endoscopic Retrograde Cholangiopancreatography. Method A prospective, analytical study was conducted in the Department of Radiodiagnosis and Imaging at Dhulikhel Hospital between October 2018 and December 2020. Altogether 100 patients of all ages with obstructive jaundice undergoing Magnetic Resonance Cholangiopancreatography and Endoscopic Retrograde Cholangiopancreatography were included. The causes of obstructive jaundice as identified by Magnetic Resonance Cholangiopancreatography were compared to that of Endoscopic Retrograde Cholangiopancreatography considering Endoscopic Retrograde Cholangiopancreatography as gold standard for the diagnosis. Result Magnetic Resonance Cholangiopancreatography revealed choledocholithiasis in 60 (60%) patients, benign stricture - 14(14%), malignant stricture-11(11%), periampullary carcinoma in 8(8%) and normal study in 4(4%) patients. Endoscopic Retrograde Cholangiopancreatography showed choledocholithiasis in 59(59%) patients, strictures (benign in 13%, malignant in 10%), ascariasis in 3(3%) and normal findings in 5(5%) patients. The sensitivity, specificity, positive predictive value and negative predictive value of Magnetic Resonance Cholangiopancreatography in detecting choledocholithiasis were 96.6%, 92.3%, 95%, and 95%. The same values for benign strictures were 92.3%, 97.7%, 85.7% and 98.9%, whereas those for malignant strictures were 90.9%, 98.8%, 90.9% and 98.8%. All values were 100% for peri-ampullary carcinoma and ascariasis. Hence, Magnetic Resonance Cholangiopancreatography showed good accuracy for detecting causes of obstructive jaundice (p < 0.05) as compared to Endoscopic Retrograde Cholangiopancreatography. Conclusion Magnetic Resonance Cholangiopancreatography is an accurate, non-invasive technique in evaluation of obstructive jaundice and offers similar diagnostic value compared to Endoscopic Retrograde Cholangiopancreatography.

Predictability of Sex from Frontal Sinus in Nepalese Population.

Background Various methods had been used for personal identification. Scientific basis of identification was initiated and progressed after 19th century which may be attributed to various scientists. With the invention of X-ray the field of identification further progressed. Modern radiological diagnostic equipments have greatly assisted in the field of forensic. Frontal sinuses are paired lobulated air cavities located posterior to superciliary arches in the frontal bone. Computed Tomography is best used to study frontal sinuses. Objective To evaluate bilateral Frontal sinus for sexual dimorphism using Computed Tomography. Method Anterior posterior length, transverse width and height of the bilateral Frontal sinus were directly measured on CT DICOM image, using Electronic Caliper in DICOM viewer software. A total 100 CT scans, 50 of each sex were collected was analysed using SPSS-20 in present study. Result The mean age distribution for male is 34.74±8.66, and for females 35.34±8.88. The mean of all the measurements take was larger in males in comparison to females with p < 0.00. The paired t test showed left side is larger than right. The discriminant function showed high significance for each measurement and also when all the measurements were combined. Conclusion Though the study being unique for Nepalese population, caution should be taken when frontal sinus is used as the only parameter. However in combination with other morphometric data is advised.

Factors Associated with Smokeless Tobacco Use among Pregnant Women in Rural Areas of the Southern Terai, Nepal.

BACKGROUND: Tobacco use among women during pregnancy leading to poor maternal and child health outcomes has been well documented. However, factors influencing use of smokeless tobacco in Nepal has not yet been well established. This study aims at exploring the factors related to smokeless tobacco use among pregnant women in rural southern Terai of Nepal. METHODS: A community-based cross-sectional study was performed at 52 wards within 6 Village Development Committee in Dhanusha district of Nepal. A total of 426 expectant mothers in their second trimester were selected using a multistage cluster sampling method. Descriptive and regression analyses were done to explore the factors that influence smokeless tobacco use. RESULTS: In a total of 426 pregnant mothers, one in five used tobacco in any form. Among the users, 13.4% used smokeless tobacco. Pregnant mothers who were smoking tobacco (AOR 6.01; 95% CI (1.88-19.23), having alcohol consumption (AOR 3.86; 95% CI (1.23-12.08), stressed (AOR 5.04; 95% CI (1.81-14.03), non-vegetarian (AOR 3.31;(1.84-13.03), not attending regular mothers' group meetings (AOR 4.63; (1.41-15.19), and not-exposed to mass media (AOR 5.02; (1.89-13.33) were significantly associated with smokeless tobacco use. Similarly, mothers of age group 20-34 years, dalit, aadibasi and janajati, hill origin, no education and primary education were more likely to use smokeless tobacco than their counterparts. CONCLUSIONS: Factors such as smoking tobacco, alcohol consumption, stress, and poor education were found to be significantly associated with smokeless tobacco use among pregnant women in southern Terai of Nepal. This requires an immediate attention develop an effective strategy to prevent and control smokeless tobacco use among pregnant women in southern Terai of Nepal.

Knowledge of Maternal and Newborn Care Among Primary Level Health Workers in Kapilvastu District of Nepal.

BACKGROUND: Higher maternal and neonatal deaths are common in low- and middle-income countries; due to less access to skilled help. Adequate knowledge and skills on maternal and newborn care (MNC) of community health workers can improve maternal and newborn health. AIMS: To identify the knowledge of primary level health workers on some components of MNC. SUBJECTS AND METHODS: Respondents were selected using simple random sampling method. For collecting the data, enumerators visited health institutions for 2 months from 1(st) October to 31(st) November 2012, and structured interview schedule was used to gather the information. A cross-sectional study was conducted in a total of one hundred and thirty-seven primary level health workers in Kapilvastu district, Nepal. The Chi-square test was employed to examine the association between the knowledge of health workers on MNC and designation and work experience. Data were analyzed using SPSS version 17. RESULTS: In a total of 137 primary level health workers, more than half 53.2% (73/137) were senior auxiliary health workers/health assistant. Health workers having correct knowledge on contents of MNC were-registration 32.1% (44/137), major components of antenatal care 57.7% (79/137), danger signs of pregnancy 39.4% (54/137), five cleans 59.1% (81/137), postnatal health problems 54.0% (74/137), majority to health action to newborn care, newborn bath and meaning of exclusive breastfeeding. There was a statistical association between designation of health workers and above-mentioned components of MNC (P < 0.05). CONCLUSIONS: The differentials in the knowledge of MNC among primary level health suggest improving knowledge of the grass root level health workers with appropriate training and development programs.

Diel trends in stomatal response to ozone and water deficit: a unique relationship of midday values to growth and allometry in Pima cotton?

Plant responses to ozone (O3 ) and water deficit (WD) are commonly observed, although less is known about their interaction. Stomatal conductance (gs ) is both an impact of these stressors and a protective response to them. Stomatal closure reduces inward flux of O3 and outward flux of water. Stomatal measurements are generally obtained at midday when gas exchange is maximal, but these may not be adequate surrogates for stomatal responses observed at other times of day, nor for non-stomatal responses. Here, we find in Pima cotton that stomatal responses to O3 observed at midday do not reflect responses at other times. Stomata were more responsive to O3 and WD near midday, despite being at quasi-steady state, than during periods of active opening or closing in morning or evening. Stomatal responsivity to O3 was not coincident with maximum gas exchange or with periods of active regulation, but coincident with plant sensitivity to O3 previously determined in this cultivar. Responses of pigmentation and shoot productivity were more closely related to stomatal responses at midday than to responses at other times of day under well-watered (WW) conditions, reflecting higher stomatal responsivity, sensitivity to O3 , and magnitude of midday gs . Under WD conditions, shoot responses were more closely related to early morning gs. Root responses were more closely related to early morning gs under both WW and WD. Responses of stomata to O3 at midday were not good surrogates for stomatal responses early or late in the day, and may not adequately predicting O3 flux under WD or when maximum ambient concentrations do not occur near midday.

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.

INTRODUCTION: Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux. This study describes the clinical and neuropathological features of a female 51 year old BPAN case. The clinical history includes learning disability and progressive gait abnormalities since childhood followed by progressive dystonic features in young adulthood. Brain imaging revealed generalised brain atrophy and bilateral mineralisation of the globus pallidus and substantia nigra. RESULTS: The major pathological findings were observed in the substantia nigra with excess iron deposition, gliosis, axonal swellings and severe neuronal loss. Iron deposition was also observed in the globus pallidus. There was extensive hyperphosphorylated-tau deposition in the form of neurofibrillary tangles, pre-tangles and neuropil threads. Furthermore, histological studies and immunoblotting confirmed a mixed Alzheimer type 3-and 4-repeat tau pathology. Microtubule-associated protein 1A/1B-light chain 3 (LC3) immunoblotting of brain homogenates indicated autophagic activity and may support the role of WDR45 in autophagy. CONCLUSIONS: The widespread Alzheimer-type tau pathology in this disease indicates that this should be considered as a tauopathy and adds further support to the proposal that impaired autophagy may have a role in tauopathies.

Assessment of Critical Knowledge on Maternal and Newborn care Services among Primary Level Nurse Mid-wives in Kapilvastu District of Nepal.

Background Despite greater emphasis on maternal and neonatal health through policy and programming in Nepal, maternal and neonatal health is still not impressive. Health care providers' knowledge assessment on maternal and neonatal care has been well documented elsewhere, but it is very little understood in Nepal. Objective The primary objective of this study was to assess the critical knowledge of primary level nurse- midwives on maternal and newborn care in Kapilvastu District of Nepal. Method This was an Institution based cross-sectional study, conducted in Kapilvastu district, Nepal among sixty eight nurse-midwives. The participants were selected using simple random sampling technique. For collecting the data, health institutions were visited by enumerators for a month from 1st October to 1st November 2012. Data were entered into Microsoft Excel, cleaned and analyzed using SPSS version 17.0. Result More than 3/4th of the nurse-midwives had 10-20 years of experience. Majority of them (89.7%) had poor knowledge in taking action to prevent mother to child transmission for HIV positive women. More than half of them (54.4%) had some knowledge in performing the active management of third stage of labor whereas almost half (51.5%) had poor knowledge to actions needed on post-partum haemorrhage (PPH). Similarly, more than two third (69.1%) had poor knowledge in newborn care. Conclusion Majority of the nurse-midwives were found to have either poor or some level of knowledge in most of the components of maternal and newborn care services. So, greater emphasis should be given to upgrade the knowledge of nurse mid-wives.

Peritonitis in a continuous ambulatory peritoneal dialysis patient by two different species of enterococci: A rare finding.

Peritonitis in a continuous ambulatory peritoneal dialysis patient by two different species of enterococci is a rare condition. We report a case of peritonitis from which vancomycin sensitive Enterococcus faecalis and vancomycin resistant Enterococcusc faecium were isolated. It also emphasizes the effectiveness of linezolid for the treatment of vancomycin resistant enterococcal infection.

Factors determining non-compliance to mass drug administration for lymphatic filariasis elimination in endemic districts of Nepal.

BACKGROUND: Mass drug administration (MDA) has been implemented in Nepal since 2003 for elimination of Lymphatic Filariasis (LF). The objective of this study was to explore the factors that determine the non-compliance to MDA for Lymphatic Filariasis elimination in endemic districts of Nepal. METHODS: A cross-sectional descriptive study was carried out in three endemic districts namely Dhading, Kapilvastu and Kailali. A total of 900 people were interviewed with structured questionnaire. RESULTS: The result shows that the respondents who knew the DEC contains Albendazole (84.9% vs 42.5%, P<0.001, Adjusted OR=2.89(1.946-4.29) at 95% CI), who were aware of MDA campaign (78.2% vs 33.8% P<0.001, Adjusted OR=2.87(1.73-4.74) at 95% CI), who were visited by health workers at their home during MDA campaign (75.9% vs 24.1% P<0.001, Adjusted OR=4.85(2.448-9.594) at 95% CI) had significantly higher compliance. The respondents who had knowledge of side effects during MDA campaign had lower prevalence of non-compliance as compared who did not have (9.4% vs 33.2%, P<0.001). CONCLUSIONS: Advanced age, primary or below education, ever married, inadequate knowledge on drug, inadequate awareness on MDA, no home visit by health workers during MDA, no belief on MDA drugs were significantly associated with higher non-compliance to MDA. In future, MDA program should focus on awareness campaigns related to composition of drugs, side effects of drugs and compulsory home visit during the campaign.

Vertical gaze palsy with skew deviation.

With the advancement of neuroradiology, clinical localization followed by radiology, had made neurology more interesting. Vertical gage palsy as presentation cerebrovascular disease is not so common. Vertical gaze palsy usually localizes the lesion to dorsal mid brain. A 56 years male patient presented with sudden onset vertigo, diplopia, transient loss of consciousness and sways toward right side while walking. Clinical examination showed vertical gaze palsy with skew deviation along with swaying towards rt. during walk. MRI brain showed - infarct involving dorsal midbrain at superior colliculus level and medial thalamus.

Examining stratified cesarean section rates using Robson classification system at Tribhuvan University Teaching Hospital.

BACKGROUND: Caesarean section rates have been increasing worldwide over the past few decades, with most countries and regions exceeding the World Health Organization recommended rate of 15% of all deliveries. METHODS: This study was carried out with the objective of reviewing the rates of cesarean sections over five years (2005-2010) and to assess the stratified rates of cesarean sections for audit of intrapartum management in University Teaching Hospital, Institute of Medicine. Data was stratified into 10 mutually exclusive groups, by using the method presented by Michael Robson. RESULTS: A total of 5907 women had under gone caeserean section over a period of five years. The results showed a growing trend of cesarean section rate from 16.6% to 25.4%. The results of this analysis using the Robson classification has shown that group 1(Nulliparous, single cephalic ≥ 37 weeks gestation in spontaneous labour) has the largest number of cesarean deliveries followed by group 3(Multiparous, single cephalic ≥37 weeks gestation in spontaneous labor, no previous CS), although Robson classification showed that group 5 was the biggest contributor. CONCLUSIONS: The growing and uniform distribution (throughout the year) of cesarean section has been observed for five years. This analysis provides evidence-based data so we can analyze where to aim our preventive measures and focus efforts in reducing the rate of CS. We would like to suggest that all hospitals and health authorities apply this standardized classification system as to monitor their CS rates and find ways to reduce it, and improve quality care.

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

AIMS: Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration with brain iron accumulation (NBIA), known as pantothenate kinase-associated neurodegeneration (PKAN). Historically, NBIA is considered a synucleinopathy with numerous reports of NBIA cases with Lewy bodies and Lewy neurites and some cases reporting additional abnormal tau accumulation. However, clinicopathological correlations in genetically proven PKAN cases are rare. We describe the clinical, genetic and neuropathological features of three unrelated PKAN cases. METHODS: All three cases were genetically screened for the PANK2 gene mutations using standard Sanger polymerase chain reaction sequencing. A detailed neuropathological assessment of the three cases was performed using histochemical and immunohistochemical preparations. RESULTS: All cases had classical axonal swellings and Perls' positive iron deposition in the basal ganglia. In contrast to neuroaxonal dystrophies due to mutation of the phospholipase A2, group VI (PLA2G6) gene, in which Lewy body pathology is widespread, no α-synuclein accumulation was detected in any of our PKAN cases. In one case (20-year-old male) there was significant tau pathology comprising neurofibrillary tangles and neuropil threads, with very subtle tau pathology in another case. CONCLUSIONS: These findings indicate that PKAN is not a synucleinopathy and, hence the cellular pathways implicated in this disease are unlikely to be relevant for the pathomechanism of Lewy body disorders.

Acute intermittent porphyria with SIADH and fluctuating dysautonomia.

Three cases of acute intermittent porphyria are reported. While in first case severe pain in abdomen with intermittent exacerbation was the only presentation, the second patient presented as accelerated hypertension and acute abdominal crises in whom the clinical course was characterized by development of deep coma due to inappropriate secretion of antidiuretic hormone before she made complete recovery. The third patient, initially manifested as acute encephalitic syndrome. After initial improvement, she developed features of acute intermittent porphyria i.e. acute abdomen, neuropsychiatric symptoms, and rapidly progressing acute motor neuropathy leading to respiratory and bulbar paralysis. In addition, she developed severe and fluctuating dysautonomia leading to cardiac arrest and fatal termination. The importance of early diagnosis, recognition of autonomic disturbances, prompt treatment and counseling for avoidance of precipitating factors is stressed.

Association of seizure, facial dysmorphism, congenital umbilical hernia and undescended testes.

With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI findings may help in confirming the diagnosis. A nine years old boy is presented where early onset seizure, mental retardation, delayed development of speech, presence of facial dysmorphism,, umbilical hernia and undescended testes suggested possibility of chromosomal 6q deletion disorder. Important deletion disorders are discussed and importance of clinical examination is stressed.

Review: genetics and neuropathology of primary pure dystonia.

Neuropathology has been the key to understanding the aetiology of many neurological disorders such as Alzheimer's disease, Parkinson's disease, frontotemporal degeneration and cerebellar ataxias. Dystonia shares many clinical features with these conditions but research in general, has been unrewarding in providing information on disease processes. Neuropathological studies are few in number and only limited morphological abnormalities have been described. In the genetic literature, dystonia loci are represented as DYT and are assigned ascending numerals chronologically as they are identified. This review will concentrate on the neuropathology of primary pure dystonia, focusing on DYT1 and DYT6 and the correlation between clinical and genetic findings. Research in this area is incomplete and confounded by the rarity of post mortem brain tissue. However, recent findings, indicating a direct interaction between the torsinA (TOR1A) gene responsible for DYT1 and the thanatos-associated domain-containing apoptosis-associated protein 1 (THAP1) gene responsible for DYT6, have important implications in understanding these two entities and also for other members of this group of disorders.

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion.

Huntington's disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallidoluysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes formutations causing HDL2, SCA17, SCA1, SCA2, SCA3,SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions. The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.