Analysis of Soluble Mesenchymal-Epithelial Transition Factor and Hepatocyte Growth Factor Serum Levels in Children With Autism Spectrum Disorder

Background: Hepatocyte Growth Factor (HGF) and its receptor, Mesothelial-Epithelial Transition (cMet) factor signaling, play an essential role in controlling synaptogenesis. Objectives: Because of the vital role of HGF and Met signaling in synaptogenesis and spatial learning function of the brain’s hippocampal region, we aimed to study the HGF and soluble cMet (s-cMet) serum levels in children with different stages of Autism Spectrum Disorders (ASD). Materials & Methods: A total of 189 ASD patients (mild; n=69, moderate; n=63 and severe; n=57) and 82 control were enrolled in this project. Blood samples were collected from ASD patients referred to Pediatric Neurology Clinic, 17 Shahrivar Hospital, Rasht City, Iran, and serum concentrations of s-cMet and HGF were measured by ELISA. The control children with no clinical characteristics of ASD attended routine blood tests. Results: HGF Mean±SD serum concentration in ASD patients was 239±52.02 pg/mL compared to controls which was 360.04±71.15 pg/mL (P=0.004). Also, the Mean±SD serum concentrations of HGF in mild, moderate, and severe ASD patients were 297.54±69.82, 232.81±56.41, and 189±33.25 ng/mL, respectively, compared to control, which was 360.18±57.40. Besides, the s-cMet Mean±SD serum concentrations in ASD and controls were 143.54±32.50 and 200.25±31.16 pg/mL, respectively (P=0.005). The Mean±SD serum concentrations of s-cMet in the mild, moderate, and severe ASD patients were 172.81±37.69, 129.81±45.55, and 85.18±22.95 ng/mL, respectively, as compared to the control, which was 214.54±34.17 ng/mL. Conclusion: Serum HGF and s-cMet concentration decreased in ASD patients corresponding to disease severity. Also, detecting serum HGF and s-cMet may help classify ASD.

CASE REPORT OF ADULT-ONSET CHARCOT MARIE TOOTH TYPE X

Charcot-Marie-Tooth (CMT) or Hereditary Motor and Sensory Neuropathy (HMSN) is the most common hereditary peripheral nerve disease with progressive chronic weakness, muscle atrophy, and sensory disturbances. There are several types and subtypes of CMT with their respective clinical manifestations. In this article, we reported a patient with of CMT type X. A 43-year-old male patient was referred to a neurology clinic with weakness in both limbs for 2 years, accompanied by tingling and sensory disturbance in both hands and feet. There are several of his family members who had similar complaints. Lumbosacral magnetic resonance imaging (MRI) examination revealed mild nucleus pulposus herniation. Electroneuromyography (ENMG) examination revealed demyelinating sensory motor polyneuropathy. Histopathological examination of nerve biopsy showed demyelination of the sural nerve. It is hard to make a diagnosis of CMT, because it requires high suspicion from clinicians once encounter a suspected case and also need to supported by sophisticated equipment such as electrophysiological examinations, nerve biopsy examinations, and genetic examinations. It is vital for clinicians for being able to diagnose CMT correctly and provide treatment as soon as possible in order to maintain the patients’ quality of life.

Approach to Radiculopathy

Low back pain and neck pain, often with associated radiculopathy, are two of the most common reasons for referral to the outpatient neurology clinic. A thorough clinical evaluation remains paramount in establishing an accurate diagnosis and subsequently an appropriate treatment plan. In this article, we review anatomic considerations for spondylotic radiculopathy; outline the clinical approach for the evaluation of these patients, including discussion of electrodiagnostic and imaging modalities; and address treatment options based on a stratified treatment approach.

Diagnosis of orthostatic tremor using smartphone accelerometry

Background Primary orthostatic tremor (OT) is a rare movement disorder characterized by a 13–18 Hz leg tremor, which arises when standing and is relieved by walking/sitting. Those affected generally do not fall, but experience fear of falling, lessened by ambulation. Because of its low amplitude, the tremor is not readily visible, and diagnosis requires confirmation with surface electromyography (sEMG). Recently, applications using the accelerometer feature of smartphones have been used to detect and quantify tremors, including OT, though the accuracy of smartphone accelerometry (SPA) in diagnosing OT is unknown. Methods We completed SPA in consecutive adults (18+ years), who presented to our neurology clinic with either subjective leg shakiness upon standing or unsteadiness when standing that lessened with ambulation, which comprised 59 of 2578 patients. We assessed tremor using the StudyMyTremor application on an iPhone 6 s adhered with tape to the patient’s tibialis anterior. Surface electromyography was completed on the same muscle. The primary outcome of this study was to determine SPA’s sensitivity and specificity in detecting OT compared with surface electromyography. Results Fifty-nine patients with the following diagnoses were included: OT (6), Parkinson’s disease, Hereditary Spastic Paraplegia, orthostatic hypotension, essential tremor, spinal cerebellar ataxia, sensory ataxia and functional movement disorder. Smartphone accelerometry detected a 13–18 Hz tremor in 5 of 6 patients diagnosed with OT by sEMG with no false positives in other conditions, yielding a sensitivity of 83%, specificity of 100% in the cohort we studied. Conclusions Though a larger sample size is desirable, preliminary data suggest that smartphone accelerometry is an alternative to surface electromyography in diagnosing OT.

Cognitive and Neuroimaging Profiles of Older Adults With Attention Deficit/Hyperactivity Disorder Presenting to a Memory Clinic

Objective: Some features of attention-deficit/hyperactivity disorder (ADHD) may resemble those of mild cognitive impairment (MCI) in older adults, contributing to diagnostic uncertainty in individuals seeking assessment in memory clinics. We systematically compared cognition and brain structure in ADHD and MCI to clarify the extent of overlap and identify potential features unique to each. Method: Older adults from a Cognitive Neurology clinic (40 ADHD, 29 MCI, 37 controls) underwent neuropsychological assessment. A subsample ( n = 80) underwent structural neuroimaging. Results: Memory was impaired in both patient groups, but reflected a storage deficit in MCI (supported by relatively smaller hippocampi) and an encoding deficit in ADHD (supported by frontal lobe thinning). Both groups displayed normal executive functioning. Semantic retrieval was uniquely impaired in MCI. Conclusion: Although ADHD has been proposed as a dementia risk factor or prodrome, we propose it is rather a pathophysiologically-unique phenotypic mimic acting via overlap in memory and executive performance.

Longitudinal Cognitive Performance of Older Adults With ADHD Presenting to a Cognitive Neurology Clinic: A Case Series of Change Up to 21 Years

Background: The neuropsychological features of older adults with ADHD are largely unknown. This retrospective chart review aims to elucidate their cognitive trajectories using a case series of six older adults with ADHD presenting with memory complaints to a cognitive neurology clinic, whom we argue are a particularly relevant group to study due to their potential to mimic neurodegenerative syndromes.Methods: Participants were included if they were age 40 or older at intake, had ADHD based on DSM-5 criteria, and had cognitive data collected prior to 2014 with follow-up at least 5 years later.Results: Five men and one woman were included (M = 53.8 years at intake) and had an average of 135.0 months of follow-up data available. Despite notable between- and within-subject variability, cognition generally improved or remained stable across visits. Two participants experienced notable memory decline, but a global consideration of their performance in other domains suggests these deficits may be frontally-mediated.Conclusion: In this small sample, cognition remained generally unchanged across 5–21 years. Isolated impairments likely reflect substantial intra-individual variability across time and measures.

Dancelike Movements in a Patient With a History of Rash

A 67-year-old man visited the neurology clinic for new-onset, generalized, uncontrollable movements. His wife noticed onset of some unusual facial expressions and facial movements. This then evolved to him having some writhing movements of the left upper and left lower extremity. His speech and swallowing also became affected. He noted a tendency to bite his tongue, which was moving uncontrollably. Shortly before his neurology clinic visit, the same writhing movements of right-sided limbs developed. No cognitive or behavioral changes were reported. He had been diagnosed with cutaneous lupus erythematosus 5 years previously after a malar rash of his face developed after sun exposure. The patient had a strong family history of autoimmunity, with 3 sisters having systemic lupus erythematosus. On physical examination, he had marked chorea, hyperkinetic movements that were unpredictable. When he walked in the hallway, he had a narrow-based gait, with some mild upper extremity hyperkinetic movements. Because of the time course and the personal and family history of autoimmunity, autoimmune chorea was suspected. His cerebrospinal fluid demonstrated normal protein concentration, blood cell count, immunoglobulin G index and synthesis rate, and oligoclonal bands. Indirect immunofluorescence assays using HEp-2 substrate were positive for antinuclear antibody and Sjö‎gren syndrome-A antibody (anti-Ro). Autoimmune chorea was diagnosed in the context of a known history of a limited form of systemic lupus erythematosus. The patient received intravenous methylprednisolone infusions. Trimethoprim-sulfamethoxazole, double strength was given for Pneumocystis jirovecii prophylaxis. A rash developed, and the patient was determined to be sulfa allergic. Instead, he received atovaquone as prophylaxis. Three years later, the patient remained in remission from his chorea except for mild occasional hyperkinetic movements of his tongue. In adults, autoimmune chorea is the most common form of chorea after levodopa-induced dyskinesias and Huntington disease. Patients have a subacute onset of symptoms and rapid progression. Patients may have accompanying neuropsychiatric symptoms.