Neurology Commons^™

Recommendations For Clinical Implementation Of Blood-Based Biomarkers For Alzheimer's Disease, Michelle Mielke, Matthew Anderson, Wesson Ashford, Andreas Jeromin, Pei-Jung Lin, Allyson Rosen, Jamie Tyrone, Lawren Vandevrede, Deanna Willis, Zul Merali, Chinedu Momoh

Brain and Mind Institute

Blood-based biomarkers (BBM) for Alzheimer's disease (AD) are being increasingly used in clinical practice to support an AD diagnosis. In contrast to traditional diagnostic modalities, such as amyloid positron emission tomography and cerebrospinal fluid biomarkers, BBMs offer a more accessible and lower cost alternative for AD biomarker testing. Their unique scalability addresses the anticipated surge in demand for biomarker testing with the emergence of disease-modifying treatments (DMTs) that require confirmation of amyloid pathology. To facilitate the uptake of BBMs in clinical practice, The Global CEO Initiative on Alzheimer's Disease convened a BBM Workgroup to provide recommendations for two clinical implementational …

The Grenada Learning And Memory Scale: Psychometric Features And Normative Data In Caribbean Preschool Children, Karen Blackmon, Roberta Evans, Lauren Mohammed, Kemi Burgen, Erin Ingraham, Bianca Punch, Rashida Isaac, Toni Murray, Jesma Noel, Cora Belmar-Roberts

Brain and Mind Institute

Objective: Neuropsychological assessment of preschool children is essential for early detection of delays and referral for intervention prior to school entry. This is especially pertinent in low- and middle-income countries (LMICs), which are disproportionately impacted by micronutrient deficiencies and teratogenic exposures. The Grenada Learning and Memory Scale (GLAMS) was created for use in limited resource settings and includes a shopping list and face-name association test. Here, we present psychometric and normative data for the GLAMS in a Grenadian preschool sample.

Methods: Typically developing children between 36 and 72 months of age, primarily English speaking, were recruited from public preschools in …

Leptomeningeal Carcinomatosis In A Young Patient With Colorectal Cancer: A Case Report, Zamanali Khakhar, Soraiya Manji, Rajiv Patel, Karishma Sharma, Sheila Waa, Sayed Karar

Internal Medicine, East Africa

Leptomeningeal carcinomatosis (LMC) is a rare and fatal complication associated with various solid tumors and hematological malignancies. It presents significant diagnostic challenges due to its nonspecific symptoms and complex clinical course. This case report details the presentation, diagnosis, and implications of LMC in a 33-year-old male with a history of colorectal cancer (CRC) and hemicolectomy. The patient presented with nonspecific symptoms of headache and dizziness. Cerebrospinal fluid cytology revealed the presence of malignant cells, leading to the diagnosis of LMC secondary to CRC. The elusive and multifaceted nature of this condition highlights the necessity for increased clinical awareness and extensive …

Relationships Between Trauma Types And Psychotic Symptoms: A Network Analysis Of Patients With Psychotic Disorders In A Large, Multi-Country Study In East Africa, Anne Stevenson, Supriya Misra, Engida Girma, Adela-Maria Isvoranu, Dickens Akena, Melkam Alemayehu, Lukoye Atwoli, Bizu Gelaye, Stella Gichuru, Symon Kariuki

Internal Medicine, East Africa

Background: The link between trauma exposure and psychotic disorders is well-established. Further, specific types of trauma may be associated with specific psychotic symptoms. Network analysis is an approach that can advance our understanding of the associations across trauma types and psychotic symptoms. Methods: We conducted a network analysis with data from 16,628 adult participants (mean age [standard deviation] = 36.3 years [11.5]; 55.8% males) with psychotic disorders in East Africa recruited between 2018 and 2023. We used the Life Events Checklist and the Mini International Neuropsychiatric Interview to determine whether specific trauma types experienced over the life course and specific …

Access To Medicines For Parkinson's Disease In Kenya: A Qualitative Exploration, Natasha Fothergill-Misbah, Juzar Hooker, Judith Kwasa, Richard Walker

Internal Medicine, East Africa

Background: The accessibility of Parkinson’s disease medicines is limited across sub-Saharan Africa,which can have negative health, social and financial consequences for people with Parkinson’s disease andtheir families. However, there is a stark gap in the literature regarding the impact of poor access to medicineson individuals.

Objectives: The study objective was to understand the accessibility of Parkinson’s disease medicines in Kenyafrom the perspective of people with Parkinson’s disease, their caregivers and neurologists.MethodsMethods: In-depth qualitative interviews were conducted with 55 people with Parkinson’s disease, 23 caregiversand 8 neurologists to understand their experience regarding challenges with accessing Parkinson’s diseasemedicines and the health, social …

The Field Of Interventional Neurology (In) In Pakistan: Scope And Challenges, Ahmed Wali

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Anjlee Shankar, Asif Ali, Shaheen Bhatty

Pakistan Journal of Neurological Sciences (PJNS)

Neurocutaneous syndromes comprise a diverse group of conditions affecting both the nervous system and the integumentary system. Within this spectrum, we present a rare and compelling case of cerebrum polycystica vera associated with ectodermal dysplasia in a 30-year-old male. The patient's clinical journey includes a sequence of seizures progressing to left-sided weakness, accompanied by compelling dermatological manifestations. Extensive neuroimaging studies, including MRI and CT scans, reveal the presence of multiple cysts in the brain, highlighting the distinct nature of this novel neurocutaneous syndrome. Based on the authors’ knowledge, this represents the first documented case report from Pakistan, while a few …

Recurrent Intraosseous Myxoma: A Case Report, Alma Corazon T De La Cruz, Michael N Sabalza

Pakistan Journal of Neurological Sciences (PJNS)

Myxomas are rare, benign but locally aggressive neoplasms that are of mesenchymal origin. These tumors are usually diagnosed only when they have grown enough to cause symptoms because of their indolent nature, hence imaging plays a large role in the diagnosis of these tumors. Imaging findings may include well-circumscribed multinodular masses with destruction of adjacent bony structures. Treatment of these tumors is complete resection and close follow up. Early recognition with physical examination and imaging studies, close follow up and multidisciplinary treatment are needed to achieve the best results for patients. We present a 34-year-old male who presented with proptosis …

Video Gaming Addiction In Pakistani Adolescents: A Growing Concern, Hamza Imran, Batool Mujtaba, Hamza Waheed, Muhammad Ibrahim

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Video game addiction, or gaming disorder, is marked by impaired control over gaming, prioritizing gaming over other activities, and continuing despite negative consequences. This can lead to psychological, social, and occupational impairments. Despite its high prevalence among adolescents, research in Pakistan is limited. This review aims to compare international research on video game addiction and raise awareness about its impact on Pakistani adolescents.

Methods: Using the PubMed, Google Scholar, and Cochrane databases, a thorough literature search was carried out to find research on video game addiction among teenagers in Pakistan, the USA, Canada, India, and China, aged …

Treatment And Outcome Of Non-Convulsive Status Epilepticus In Children: A Cross-Sectional Study, Shaila Ali, Natasha Ghani, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Incidence and prevalence of non-convulsive status epilepticus is difficult to know, especially in developing countries where access to diagnostic tools like EEG is limited. The objective of this study was to determine the treatment and outcome of non-convulsive status epilepticus in children.

Methods: A total of 38 children were included in this prospective cross-sectional study, having EEG suggestive of non-convulsive status epilepticus. Response of the treatment given was measured by doing EEG after treatment to see resolution of non-convulsive status and improvement in clinical features too. Outcome was also assessed in terms of morbidity and mortality. The …

Causes And Presentations Of Bilateral Thalamic Lesions: A Retrospective Cross-Sectional Study From A Tertiary Care Hospital, Shafaq Saleem, Muhammad Saleem, Fatima Mubarak, Salman Farooq

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Bilateral thalamic lesions present a significant diagnostic and therapeutic challenge due to their critical role in sensory, motor, and cognitive functions. The objective of this study was to study the causes and presentations of bilateral thalamic lesions among patients presenting to a tertiary care hospital. Methods: This retrospective study reviewed 40 patients aged 18–80 years admitted to Aga Khan University Hospital between 2006 and 2023 with MRI-confirmed bilateral thalamic lesions. Data collected included demographics, clinical presentations, radiological findings, and final diagnoses. The data was analyzed through SPSS 22.0.

Results: Of the 40 cases analyzed, the most common …

Gender Differences In Risk Factor Profiles And Predictors Of Poor Outcomes Among Acute Stroke Patients: A Pilot Study From Egypt, Ahmed Abualhasan, Foad Abd-Allah, Sahar Salaheldin, Enas Alsayyad

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Stroke remains a leading cause of mortality and long-term disability worldwide, with significant socioeconomic implications. This study aimed to investigate gender-based differences in acute stroke patients regarding baseline characteristics, clinical presentation, and predictors of poor outcome Among Egyptian population.

Methods: We prospectively recruited 116 acute stroke patients admitted to the stroke unit at Cairo University Hospitals from January 2020 to June 2020. Detailed data on demographics, clinical characteristics, diagnostic workup, hospital course, and functional outcomes were collected. Poor outcome was defined as a modified Rankin Scale (mRS) ≥ 3 at discharge. Data were analyzed using SPSS version …

A Case Of Charcot-Marie-Tooth Disease Type 2o (Cmt 20) Associated With Dync1h1 And Slc12a6 Mutations, Tehreem Arshad, Muhammad Jawad Hassan, Arsalan Ahmad

Pakistan Journal of Neurological Sciences (PJNS)

Charcot-Marie-Tooth disease (Charcot Marie-Tooth) comprises of a variety of hereditary diseases affecting the peripheral nervous system. Charcot Marie-Tooth2 is a subgroup caused by defects in the axon of the peripheral nerve cells. Charcot Marie-Tooth Type 2O is an uncommon type that affects less than one in a million people and is linked to specific genetic abnormalities. We report a case study of a 66-year-old individual with Charcot Marie-Tooth Type 2O, diagnosed on clinical presentation and identified through genetic analysis. Electromyography and nerve conduction studies supported the diagnosis of an axonal sensorineural neuropathy. A comprehensive genetic neuropathies panel led to the …

Hurdles In Diagnosis Of Familial Amyotrophic Lateral Sclerosis With Anticipation Catastrophe Across Three Generations: A Case Report, Sana Ghous, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

Familial amyotrophic lateral sclerosis (F-ALS), a rare hereditary variant of ALS, is characterized by a genetic predisposition to the disease. In this case report, we reveal a compelling instance of F-ALS within a three-generation family, involving a grandfather, son, and grandson, all manifesting early-onset symptoms and progressive upper and lower motor neuron findings. The clinical diagnosis was confirmed through electromyography fulfilling El Escorial criteria of ALS. Our investigation highlights the familial connection in this case, emphasizing the hereditary aspect of ALS. This report underscores the significance of considering familial ALS in cases of successive generational involvement with early onset, a …

Rare Presentation Of Central Nervous System Tuberculosis With Bilateral Anterior Cerebral Artery Aneurysm: A Case Report, Maryam Khalil, Mansoor Iqbal, Samer Naik, Ayma Khan Khan, Zakir Jan, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

Central Nervous System tuberculosis (CNS TB) with intracranial aneurysms is rare and needs prompt diagnosis and early management. The presence of un-ruptured or ruptured aneurysms in the presence of CNS infection is difficult to treat in both acute settings and long-term management because of possible complications prevention. A female of 70 years of age presented with a history of fever, headache, vomiting, and altered sensorium for one week with GCS of 13/15, later developing paraparesis. She was diagnosed to have CNS tuberculosis with complicating bilateral anterior communicating artery (ACA) aneurysms. She was managed conservatively in our hospital and was referred …

Ocrelizumab In Multiple Sclerosis:Real-World Experience From Baluchistan, Pakistan, Ahmed Wali, Sajid Hameed, Hazar Khan, Amara Ahmed, Madiha Malik

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Multiple sclerosis (MS) is an autoimmune demyelinating disorder affecting the central nervous system. Ocrelizumab, a disease-modifying drug for MS, is funded by Bait ul Maal Pakistan for economically disadvantaged patients in Balochistan. The objective of this study was to evaluate the treatment response of Ocrelizumab in our population.

Methods: This prospective observational study enrolled 22 patients from three tertiary care hospitals in Balochistan from July 2021 to June 2022. Patients aged 18–50 years diagnosed with MS and without contraindications for Ocrelizumab were included. The Expanded Disability Status Scale (EDSS) was calculated at baseline and at three, six, …

Neurocognitive Outcome Following Tuberculous Meningitis Treatment: A Systematic Review, Muhammad Ilham Dhiya Rakasiwi, Erlina Burhan, Afid Brilliana Putra, Ihya Fakhrurizal Amin, Nadhif Wiratara

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Tuberculous meningitis (TBM) is an infectious disease of the central nervous system that remains to be a global health challenge. Patients who survive after experiencing TBM have a risk of developing functional, cognitive and psychological disorders that can affect daily activities. The objective of this study is to present a comprehensive review of data on cognitive outcome after TBM infection.

Method: We conducted a systematic literature search to identify studies addressing cognitive outcomes in adult TBM patients. Following a systematic literature search (PubMed, Scopus, EBSCO), studies were reviewed by independent reviewers to assess eligibility for inclusion. Three …

Evaluation Of Body Mass Index (Bmi): A Risk Factor For Stroke Among Pakistani Youth, Shafaq Saleem, Safia Awan, Ibrar Rafique, Kashif Hafeez

Pakistan Journal of Neurological Sciences (PJNS)

Background and objective: Body Mass Index (BMI) has been recognized as a significant risk factor for stroke, especially among younger populations in South Asia. Rising obesity rates contribute to non-communicable diseases, with increased stroke incidences being observed in younger adults. The objective of this study was to assess BMI distribution among Pakistani youth across various educational levels, providing insight into obesity trends and potential health risks.

Methods: This cross-sectional study was conducted through an online platform, surveying 2,223 respondents across 38 cities in Pakistan. A semi-structured questionnaire was administered, covering 600 educational institutions. Participants were categorized by BMI using WHO …

An Exploration Of The Genetics Of The Mutant Huntingtin (Mhtt) Gene In A Cohort Of Patients With Chorea From Different Ethnic Groups In Sub-Saharan Africa, Mendi J. Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola Ojo, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Background: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans.

Objective: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa.

Methods: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants …

Severe Ataxia With Cognitive Impairment In A Young Child: A Case Report Of Pontocerebellar Hypoplasia, Soban Khan, Zeeshan Munawar, Zaid Waqar, Saad Ali, Bushra Khalid, Amina Sadiqa, Mazhar Badshah

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Adolescence is a period of rapid development and a variety of genetic disorders present during this time due to difficulties with motor and cognitive skills. A very rare group of diseases is genetic Pontocerebellar Hypoplasia, characterized by a developmentally small cerebellum that leads to ataxia and movement abnormalities. Here, we present a case of a young boy who presented with ataxia and falls.

Age-Stratified Mosaic Of Neuropathies: A Comprehensive Analysis Of The Prevalence And Patterns In Different Age Groups, Sana Ghous, Anjlee Shankar, Abdul Qadir Baloch, Dipanty Khastoori, Tahira Maqsood, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Neuropathies pose significant challenges in diagnosis and management due to their heterogeneous etiologies, varied clinical presentations, and differential prevalence across age groups. The objective of this study was to analyze the distribution of neuropathies among patients in various age brackets, highlighting prevalent neuropathic types and their clinical implications.

Methods:

From September 18, 2018 to September 17, 2019, 405 patients from Neurology Ward of Chandka Medical College Hospital in Larkana were included in this retrospective cross-sectional comprehensive analysis. Nerve conduction studies (NCS) of these patients were conducted in the electrophysiology department. The study cohort was stratified into …

Effects Of Maternal Subclinical Hypothyroidism On Neurodevelopment Of Offspring- An Animal-Based Study, Sabah Farhat, Syeda Sadia Fatima, Mehir Un Nisa Iqbal, Fazal Arain

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Maternal subclinical hypothyroidism (SCH) during pregnancy is associated with adverse maternal and neonatal outcomes, including cognitive and neuropsychiatric effects. This study aimed to assess the impact of maternal SCH on young rats, examining behavioral and gross brain structure changes, and evaluating reversibility after levothyroxine treatment.

Methods:

This experimental animal study was conducted at the Aga Khan University for a duration of 10 months. The study was approved by the Ethical committee for Animal Care and Use. Fourteen female Sprague Dawley rats were grouped into Treated (induced with SCH, treated with levothyroxine), Untreated (induced with SCH, no …

Use Of The 0.3-Tesla Mri Machine In Pakistan For Neurological Disorders In The Current Era: A Necessary Compromise Or A Counterproductive Exercise?, Wajid Jawaid

Pakistan Journal of Neurological Sciences (PJNS)

No abstract provided.

Beyond The Mosquito Sting: Guillain-Barre Syndrome Following Malarial Seasonal Surge, Sana Ghous, Alam Ibrahim Siddiqui, Abdul Rahman Soomro, Abu Bakar Shaikh, Sajjad Hussain Jalbani, Abdul Ghafoor Magsi

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Malaria, a prevalent disease most commonly caused by Plasmodium vivax and falciparum, frequently leads to intricate neurological complications. The objective of this study was to study Guillain-Barre syndrome as a prevalent neurological manifestation of malaria.

Methods:

A cross-sectional observational study was undertaken at Neurology Department of Chandka Medical College Hospital in Larkana, from April 2023 to September 2023 during the seasonal peak of malaria. The study included 20 patients who met the specified criteria. SPSS version 23.0 was used for data analysis.

Results:

Among the 20 patients who developed Guillain-Barre Syndrome following malaria infection, 18 exhibited …

Wilson’S Disease Presenting As Status Epilepticus: A Case Report, Iqra Athar, Neelma Naz Khattak, Hania Batool, Tehreem Farah, Tashfain Shifa, Zukhruf Zayian

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common. Here, we describe a case of a 19-year-old boy who presented with a history of hallucinations and status epilepticus. Initial investigations were normal, but due to a rising trend in alanine transaminase (ALT), a slit lamp examination was performed, revealing Kayser-Fleischer (KF) rings in the eyes. The patient was diagnosed with WD due to the presence of these KF rings …

Atypical Facio-Scapulo-Humeral Dystrophy With Facial Sparing: A Case Report, Umer Younas, Asma Aamir, Farooq Azam Rathore

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Facio-Scapulo-Humeral Dystrophy (FSHD) is an autosomal dominant and third most common inherited muscular dystrophy. Typical phenotype of FSHD initially affects the muscles of the face and upper arm. Atypical FSHD refers to genetically confirmed FSHD with phenotypic variations. Scapulo-Humeral Dystrophy (SHD) is the most common atypical form of FSDH characterized by no facial muscle weakness on clinical examination, while other signs remain consistent with FSHD. We report a 31-year-old male who presented with foot drop and had an unexpected presentation as SHD. Provisional diagnosis of SHD was based on careful medical history, physical examination findings, modest rise in muscle …

Role Of Minimal F-Wave Latency In The Electrodiagnosis Of Polyneuropathy, Areeba Qaiser, Safia Bano, Muhammad Imran Khan, Ahsan Numan

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Polyneuropathy is a debilitating condition that causes damage to more than two peripheral nerves in the body. The objective of this research was to detect the role of minimal F-wave latency as compared with other nerve conduction parameters for the electro-diagnosis of polyneuropathies.

Methods:

In this descriptive, prospective cross-sectional study, 80 consecutive patients with clinical diagnosis of polyneuropathy (both acute and chronic) between July and December 2023, presenting to the Neurology Department at King Edward Medical University were enrolled. Patients with clinical diagnosis of cervical/lumbar radiculopathies, plexopathies, compressive myelopathy , neuromuscular junction diseases, motor neuron disorders, …

Analyzing The Impact Of Pulse Steroid Therapy On Relapse Rates And Disease Progression In Relapsing-Remitting Multiple Sclerosis: A Comprehensive Retrospective Study, Sana Ghous, Anjlee Shankar, Abdul Rahman Soomro, Abdul Qadir Baloch, Asif Ali, Alam Ibrahim Siddiqui

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and Objective:

Relapsing remitting MS (RRMS) is characterized by recurrent relapses with remissions. Over an extended time-frame, high-dose steroid administration has primarily centered on the treatment of acute relapses, rather than relapse prevention. The objective of this retrospective study is to assess the long-term impact of administering three monthly pulse steroid therapy for three days on relapse rates and the Expanded Disability Status Scale (EDSS) scores in patients with RRMS.

Methods:

This study was conducted at Neurology ward of Chandka Medical College Hospital in Larkana from January 2021 to January 2023. A retrospective analysis of historical patient data, …

Functional Movement Disorders: Understanding, Approach And Diagnosis, Hudaibiya Ayub, Talbiya Ayub, Rasheed Azhar

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

This commentary offers a comprehensive examination of Functional Movement Disorders (FMD) and explores recent advancements in our understanding and treatment of these intricate syndromes. FMDs challenge clinicians due to their variable nature and diverse clinical presentations, often intertwined with psychological factors. Impairments in motor intention and agency must be considered when providing care. Recognizing that non-motor symptoms can have a major impact on a patient's quality of life is equally important. Recognizing FMDs as multi-faceted conditions requiring multidisciplinary care allows consideration of cognitive, social, and demographic aspects.

Hypertonic Saline For Ischemic Stroke: A Review, Rameen Ata Bajwa, Angelina Jessani, Hanan Farzand Raja, Bisma Aziz

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT

Background and objective:

Elevated intracranial pressure (ICP) is a critical complication of ischemic stroke. This review article summarizes existing literature pertaining to the role of hypertonic saline (HTS) in lowering ICP in ischemic stroke patients.

Methods:

Studies were selected using a comprehensive search of several research databases. Studies conducted in adult (aged 18 and older) human patients receiving HTS osmotherapy for elevated ICP were included, encompassing a wide range of neurological conditions and various administration methods, durations, and concentrations of HTS.

Results:

We found HTS to reduce ICP in ischemic stroke patients, on par effectively, and in some studies, …