TDP43 pathology in the brain, spinal cord, and dorsal root ganglia of a patient with FOSMN

OBJECTIVE: To describe the histopathologic features of a case of facial-onset sensory and motor neuronopathy (FOSMN). METHODS: We describe a postmortem examination performed on a 54-year-old man with FOSMN associated with personality change. RESULTS: Postmortem examination revealed TAR DNA-binding protein (TDP) 43 proteinopathy with widespread distribution. TDP43 pathology was seen in the neurons and glial cells and was most pronounced in the subthalamic nucleus followed by the spinal cord, including dorsal root ganglia, brainstem, and other deep cerebral nuclei. In the medial temporal lobe, neocortex and subcortical hemispheric white matter TDP43 pathologic inclusions were very rare. In contrast to TDP43 pathologies associated with typical amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD)–TDP, in this case, there were more frequent TDP43-positive oligodendroglial, coiled body–like cytoplasmic inclusions than neuronal inclusions. Neuronal cytoplasmic TDP43 inclusions with globular and skein-like morphology were seen in both anterior horn cells and dorsal root ganglia. No β-amyloid, α-synuclein, or significant hyperphosphorylated tau pathology was seen. CONCLUSION: This case provides further evidence that FOSMN is a neurodegenerative disease characterized by TDP43 pathology. Despite minimal cortical TDP43 pathology, the clinical features of the behavioral variant of FTD in this patient suggest that FOSMN may fall within or overlap with the FTD-ALS spectrum

Síndrome de Guillain Barré relacionados a infección por SARS – CoV 2 en Lima, Perú. Reporte de casos

COVID-19 predominantly affects the respiratory tract, but extrapulmonary involvement including the nervous system has been reported. We report two patients who presented SARS-CoV-2 associated Guillain-Barre syndrome.La COVID -19 afecta predominantemente el sistema respiratorio, pero también se ha descrito compromiso extrapulmonar, incluido la afectación del sistema nervioso.  Se describen los casos de dos pacientes con infección por SARS –CoV-2 que desarrollaron el síndrome de Guillain Barré

Síndrome de Guillaín-Barré y COVID-19: una revisión narrativa

INTRODUCCIÓN: El COVID-19 es una enfermedad infecciosa ocasionada por el SARS-COV-2. El síndrome de Guillaín-Barré (SGB) es una polirradiculoneuropatía inflamatoria autoinmune aguda y potencialmente fatal. En la actualidad, se han reportado casos de pacientes que presentan ambas patologías, cuyas manifestaciones clínicas fueron desde debilidad muscular hasta dificultad respiratoria; por tal motivo el presente trabajo tiene por objetivo caracterizar la clínica de los casos de SGB en pacientes con COVID-19. METODOLOGÍA: Se realizó una búsqueda bibliográfica en PubMed, ScienceDirect y JAMA, además de revisión del sitio Web de la OMS, utilizando términos MeSH y búsqueda libre para recabar sólo los reportes de caso en que pacientes con COVID-19 desarrollaron SGB. RESULTADOS: De los 14 reportes de casos el 50% fueron varones, siendo la edad promedio de varones 55,71 y de mujeres 60,71. Se encontró 5 pacientes con antecedente  médicos, que tuvieron un curso clínico desfavorable. Los tipos de neuropatía que se encontraron fueron 8  desmielinizantes , 2 axonales , y 4 no reportados; así mismo en el 85.7% se evidenció disociación albuminocitológica. En todos los casos reportados se utilizó la IVIG como tratamiento para el SGB, y se observó una recuperación completa en el 70% de los casos. CONCLUSIÓN: La mayoría de casos de SGB se presentaron de forma posterior al COVID-19; y fueron de tipo desmielinizante. Aquellos pacientes con comorbilidades previas, presentaron evolución desfavorable. Palabras clave: COVID-19, síndrome de Guillaín-Barré DOI: http://dx.doi.org/10.17268/rmt.2021.v16i02.0

Antibodies to CRMP3–4 associated with limbic encephalitis and thymoma

We present a case with subacute limbic encephalitis (LE) and thymoma. Neither classical onconeural antibodies nor antibodies to voltage gated potassium channels (VGKC) were detected, but the serum was positive for anti-glutamic acid decarboxylase (GAD). The patient serum also stained synaptic boutons of pyramidal cells and nuclei of granule cells of rat hippocampus. The objective of the study was to identify new antibodies associated with LE. Screening a cDNA expression library identified collapsin response mediator protein 3 (CRMP3), a protein involved in neurite outgrowth. The serum also reacted with both CRMP3 and CRMP4 by Western blot. Similar binding pattern of hippocampal granule cells was obtained with the patient serum and rabbit anti-serum against CRMP1–4. The CRMP1–4 antibodies stained neuronal nuclei of a biopsy from the patient's temporal lobe, but CRMP1–4 expression in thymoma could only be detected by immunoblotting. Absorption studies with recombinant GAD failed to abolish the staining of the hippocampal granule cells. Our findings illustrate that CRMP3–4 antibodies can be associated with LE and thymoma. This has previously been associated with CRMP5