C erebellar liponeurocytomas are typically lowgrade tumors that arise in the cerebellar hemispheres or vermis and contain cells of neuronal, astrocytic, and lipomatous differentiation. 17 The biology and long-term outcomes of these tumors are undefined, and to our knowledge, familial occurrences have not been described. We present here the case of a young woman with a cerebellar liponeurocytoma and multiple immediate family members, including her mother, with similar lesions. This report describes the tumors from the patient and her mother and provides a brief overview of the histopathology and genetic changes associated with this disease. case report Clinical PresentationA 37-year-old woman presented with a 2-year history of worsening morning and daytime headaches in the occipital area that radiated over the cranium. She also described intermittent paresthesia in her hands and feet, which was of variable distribution and duration. The patient was otherwise healthy with a grossly normal neurological examination. She smoked cigarettes but had no other known medical problems. CT and MRI of the head and spine revealed a solitary fat-containing tumor arising from the region of the superior cerebellar hemisphere and vermis. The heterogeneous lesion had numerous ill-defined septations with patchy enhancement and measured 4.4 × 4.1 × 4.3 cm in the anterior-posterior, medial-lateral, and superior-inferior dimensions, respectively. It extended through the incisura and involved the tectal plate and several deep veins, including the left basal vein of Rosenthal. There was complete effacement of the fourth ventricle and compensated dilation of the third and lateral ventricles. There was displacement of the cerebellar tonsils through the foramen magnum, with compression of the cervicomedullary junction ( Fig. 1A and B).abbreviatioNs GFAP = glial fibrillary acidic protein; IDH1 = isocitrate dehydrogenase 1; MAP-2 = microtubule-associated protein 2; MIB-1 = monoclonal antihuman Ki 67. The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previo...

BackgroundBackground: Perry syndrome is a rare genetic parkinsonian disorder with TAR DNA binding protein 43 (TDP-43) pathology clinically presenting with parkinsonism, neuropsychiatric features, weight loss, and central hypoventilation. As respiratory complications are often the cause of death, studies likely show the early stage of the neurodegenerative process. Because of the rarity of this condition, few studies exist, and each case provides insight into pathological findings in this neurodegenerative condition. Objective Objective: To study the clinical and pathological correlations of an autopsy case of Perry syndrome. Methods Methods: The patient was a woman in her 50s with Perry syndrome and a DCTN1 gene mutation. Between October 2016 and July 2019, she underwent postmortem and pathological examination at University Hospital in London, Ontario, Canada. Data were obtained through clinical pathological examination. Results Results: Microscopy showed significant neuronal loss with pigmentary incontinence and gliosis in the substantia nigra. There was no atrophy elsewhere, including the frontal and cingulate cortex. Intraneuronal cytoplasmic TDP-43 inclusions and neurites were noticed in a moderate number in the substantia nigra and midbrain and were sparsely noticed in the basal ganglia, thalamus, thoracic motor neuron, posterior nucleus of the hypothalamus, and rostral ventral medulla. β-Amyloid, Lewy body, and tau pathologies were absent. Rare axonal swelling was identified at the rostral ventrolateral medulla. Conclusions and RelevanceConclusions and Relevance: This study confirms that Perry syndrome is characterized by TDP-43 pathology with absent Lewy bodies or tau pathology. These findings support the hypothesis of dysfunctional neurons in the medulla and hypothalamus, which may respectively correlate to the clinical symptoms of hypoventilation and weight loss in Perry syndrome.Perry syndrome (PS) is a rare neurodegenerative disorder with parkinsonism, neuropsychiatric features (depression/apathy), weight loss, and central hypoventilation leading to respiratory failure. 1 The causative gene is an autosomal-dominant pathogenic variant in DCTN1, which encodes dynactin subunit p150 Glued involved in axonal transport. 2 Because of the rarity of the condition, few pathological studies exist. However, it is a unique parkinsonian disorder characterized by the presence of TAR DNA binding protein 43 (TDP-43) pathology in previous studies, especially in the substantia nigra (SN). 3 Despite profound respiratory failure and weight loss in this disorder, there is no clear consensus on the clinicopathologic correlation of these symptoms. PS has been described in at least 18 families worldwide, 2,4 and we provide a pathologic study of a patient in a newly identified family to better understand the pathologic findings in PS. MethodsAt autopsy the brain was retrieved and then fixed in 10% neutral formalin for 2 weeks. After fixation, formalin-fixed paraffin embedded blocks were prepared. Blocks from the bilateral

hereby declare that they have no conflicts of interest disclose.