Leucine-Rich Glioma-Inactivated 1 versus Contactin-Associated Protein-like 2 Antibody Neuropathic Pain: Clinical and Biological Comparisons.

Pain is a under-recognized association of leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) antibodies. Of 147 patients with these autoantibodies, pain was experienced by 17 of 33 (52%) with CASPR2- versus 20 of 108 (19%) with LGI1 antibodies (p = 0.0005), and identified as neuropathic in 89% versus 58% of these, respectively. Typically, in both cohorts, normal nerve conduction studies and reduced intraepidermal nerve fiber densities were observed in the sampled patient subsets. In LGI1 antibody patients, pain responded to immunotherapy (p = 0.008), often rapidly, with greater residual patient-rated impairment observed in CASPR2 antibody patients (p = 0.019). Serum CASPR2 antibodies, but not LGI1 antibodies, bound in vitro to unmyelinated human sensory neurons and rodent dorsal root ganglia, suggesting pathophysiological differences that may underlie our clinical observations. ANN NEUROL 2021;90:683-690.

Isolated Third Cranial Nerve Palsy in Pituitary Apoplexy: Case Report and Systematic Review.

OBJECTIVES: To report a case of isolated third nerve palsy from pituitary apoplexy and perform a systematic literature review. MATERIALS AND METHODS: MEDLINE/EMBASE databases were searched up to September 2020. INCLUSION CRITERIA: Age≥18, isolated third nerve palsy from pituitary apoplexy. EXCLUSION CRITERIA: Age<18, presence of other neurological findings, no hemorrhage or infarction of pituitary. RESULTS: Case report: A 76-year-old woman presented with headache and right-sided ptosis. Right-eye exam revealed complete ptosis, absent pupillary constriction and accommodation, depressed and abducted eye on primary gaze, and -1 impaired depression, adduction, elevation, without other neurological findings. Brain MRI was suggestive of pituitary apoplexy. Pathology after transsphenoidal resection revealed an infarcted pituitary adenoma. Third nerve palsy resolved completely in 21 days. Systematic review: Twenty-three studies reporting 35 patients were selected from 182 abstracts. Twenty-nine (83%) had complete isolated third nerve palsy. Headache was reported in 31 (97%). Thirty-one had hemorrhage and 1 had infarction of pituitary. Cavernous sinus invasion occurred in 14 (50%). Twenty-eight were managed surgically (80%) and 7 medically (20%). Nerve palsy resolved completely in 27 (82%) and partially in 4 (11%). CONCLUSIONS: Pituitary apoplexy is an important differential diagnosis in patients with isolated third nerve palsy. Isolated third nerve palsy in apoplexy appears to have favorable prognosis.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.

PURPOSE: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary molecular assay. SMA newborn screening was implemented in New York State (NYS) on 1 October 2018. METHODS: Screening was conducted using DNA extracted from dried blood spots with a multiplex real-time quantitative polymerase chain reaction (qPCR) assay targeting the recurrent SMN1 exon 7 gene deletion. RESULTS: During the first year, 225,093 infants were tested. Eight screened positive, were referred for follow-up, and confirmed to be homozygous for the deletion. Infants with two or three copies of the SMN2 gene, predicting more severe, earlier-onset SMA, were treated with antisense oligonucleotide and/or gene therapy. One infant with ≥4 copies SMN2 also received gene therapy. CONCLUSION: Newborn screening permits presymptomatic SMA diagnosis, when treatment initiation is most beneficial. At 1 in 28,137 (95% confidence interval [CI]: 1 in 14,259 to 55,525), the NYS SMA incidence is 2.6- to 4.7-fold lower than expected. The low SMA incidence is likely attributable to imprecise and biased estimates, coupled with increased awareness, access to and uptake of carrier screening, genetic counseling, cascade testing, prenatal diagnosis, and advanced reproductive technologies.

Exercise in neuromuscular disease.

In this review, the authors present an overview of the role of exercise in neuromuscular disease (NMD). The authors demonstrate that despite the different pathologies in NMDs, exercise is beneficial, whether aerobic/endurance or strength/resistive training. The authors analyze methodological flaws of existing studies and suggest improvements for future trial protocols. Finally, we discuss specialized exercise training of specific muscles, as well as new technologies adapted from other neurologic disorders, including body-weight-supported treadmill ambulation, robotic-assisted gait training, and neuromuscular electrical stimulation.

Acute transverse myelitis (ATM) associated with COVID 19 infection and vaccination: A case report and literature review.

Acute transverse myelitis (ATM) is an inflammatory disorder caused by many etiologies, from postinfectious to autoimmune. Rarely, ATM cases have been reported after both COVID-19 infection and COVID-19 vaccination. We described our experience with ATM after COVID-19 infection and conducted a literature review. Case finding Methods: We reported a case of longitudinally extensive ATM after COVID 19 infection, who also received convalescent plasma therapy, and present a comprehensive literature review of ATM cases reported after COVID-19 infection and COVID-19 vaccination. The literature search was done using PubMed and Google scholar with keywords and selected peer-reviewed articles. The search included all cases from Jan 2020 to Sept 2022. Results: A total of 60 ATM cases reported association with post COVID 19 infection, and 23 ATM cases reported association with post COVID 19 vaccinations. Among post COVID 19 ATM cases, the mean age was 49 years and the youngest reported was 7-month-old. A total of 55% (33) were longitudinally extensive ATM. The most common symptom was lower extremity weakness. One case was reported as necrotizing myelitis on biopsy, and another case overlapped with syndrome of GBS and longitudinal ATM. No cases reported using convalescent plasma therapy after infection. Almost all the ATM cases were treated with steroids, but some cases needed additional treatment since not all responded adequately. Six cases (10%) responded with steroids plus plasmapheresis, and 5 cases (8%) responded with steroids + IVIG, especially in the pediatric age group. One case reported a positive response after treatment with eculizumab, and another with infliximab. Two cases (3%) remained paraparetic. Among post covid-19 vaccine ATM cases, 4 cases (17%) were reported as longitudinally extensive ATM. Five cases (21%) had symptom onset within a week after vaccination. Almost all reported a response to steroids except for one case which reported fatality after the 58th day after vaccination. Conclusion: ATM, in the setting of acute COVID-19 infection, has been described in multiple cases and is a rare complication of COVID-19 vaccination.

Exercise in neuromuscular disease.

In this review, we present an overview of the role of exercise in neuromuscular disease (NMD). We demonstrate that despite the different pathologies in NMDs, exercise is beneficial, whether aerobic/endurance or strength/resistive training, and we explore whether this benefit has a similar mechanism to that of healthy subjects. We discuss further areas for study, incorporating imaginative and novel approaches to training and its assessment in NMD. We conclude by suggesting ways to improve future trials by avoiding previous methodological flaws and drawbacks in this field.

Concurrent NMDAR and GFAP Antibody Encephalitis During Pregnancy.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune antibody encephalitis, commonly affecting young women with comorbid ovarian teratoma. It typically presents with alteration of consciousness, psychosis, movement disorders eventually deteriorating with seizures, dysautonomia and central hypoventilation requiring critical level of care that may last weeks to months. Removal of teratoma and immunosuppressant therapy support can led to a dramatic recovery.To our knowledge, this is the first illustrated case in the literature of a pregnant woman presenting with concurrent autoimmune NMDAR and anti-glial gibrillary acidic protein(GFAP) antibody encephalitis in the setting of an ovarian teratoma. Despite the teratoma removal and receiving various forms of immunosuppressant therapy, a meaningful neurological improvement was observed following the delivery. After a prolonged hospitalisation and recovery period, the patient and her offspring made an excellent recovery highlighting the significance of early diagnosis and management.