Cold-Induced Reflex Epilepsy.

This case report describes a woman cold-induced reflex seizures.

Ophthalmoplegia With Isolated Extraocular Muscle Hypertrophy.

A 60-year-old man is experiencing diplopia but no problems with visual acuity, pain, or other symptoms. A magnetic resonance image of the head shows abnormal thickening and T2 hyperintensity of the right lateral rectus muscle. What is your diagnosis?

Telemedicine-Based Cognitive Examinations During COVID-19 and Beyond: Perspective of the Massachusetts General Hospital Behavioral Neurology & Neuropsychiatry Group.

Telehealth and telemedicine have encountered explosive growth since the beginning of the COVID-19 pandemic, resulting in increased access to care for patients located far from medical centers and clinics. Subspecialty clinicians in behavioral neurology & neuropsychiatry (BNNP) have implemented the use of telemedicine platforms to perform cognitive examinations that were previously office based. In this perspective article, BNNP clinicians at Massachusetts General Hospital (MGH) describe their experience performing cognitive examinations via telemedicine. The article reviews the goals, prerequisites, advantages, and potential limitations of performing a video- or telephone-based telemedicine cognitive examination. The article shares the approaches used by MGH BNNP clinicians to examine cognitive and behavioral areas, such as orientation, attention and executive functions, language, verbal learning and memory, visual learning and memory, visuospatial function, praxis, and abstract abilities, as well as to survey for neuropsychiatric symptoms and assess activities of daily living. Limitations of telemedicine-based cognitive examinations include limited access to and familiarity with telecommunication technologies on the patient side, limitations of the technology itself on the clinician side, and the limited psychometric validation of virtual assessments. Therefore, an in-person examination with a BNNP clinician or a formal in-person neuropsychological examination with a neuropsychologist may be recommended. Overall, this article emphasizes the use of standardized cognitive and behavioral assessment instruments that are either in the public domain or, if copyrighted, are nonproprietary and do not require a fee to be used by the practicing BNNP clinician.

Psychogenic non-epileptic seizures with and without epilepsy: Exploring the influence of co-existing psychiatric disorders on clinical characteristics and outcomes.

BACKGROUND AND OBJECTIVES: Psychogenic non-epileptic seizures (PNES) are commonly associated with co-existing psychiatric disorders. The relationship between psychiatric factors and PNES episodes with and without epilepsy remains understudied. We reviewed co-existing psychiatric disorders in PNES-only, PNES with epilepsy aiming to examine whether these co-existing disorders associated with PNES clinical presentation and long-term outcomes. METHODS: We conducted a retrospective, longitudinal cohort study of patients with PNES diagnosed at our EMU from May 2000 to April 2008, with follow-up clinical data until September 2015. We categorized patients into three groups: PNES-only, PNES+ definite epilepsy, and PNES+ possible/probable epilepsy. RESULTS: In total, 271 patients with PNES were identified: 194 had PNES-only, 30 had PNES+ possible or probable epilepsy, and 47 had PNES+ definite epilepsy. No significant differences were observed in the prevalence of depression, anxiety, post-traumatic stress disorder (PTSD), substance abuse, or suicidal thoughts among the three groups. Similarly, no differences in co-existing psychiatric disorders characteristics were discovered among patients grouped by various durations and frequencies of PNES episodes. At EMU admission, for PNES-only patients total of 130/194 patients (67%) were on ASMs, and 64/194 (32.9%) were not. PNES-only not on ASM were the most likely to report at least two of the three main psychiatric disorders (depression, anxiety, and PTSD; p = 0.01). At the final follow-up, 68/130 (52.3%) and 92/130 (70.8%) patients were able to discontinue or reduce their ASM intake, respectively, with no significant differences in co-existing psychiatric disorders among them (p < 0.001). Overall, 51.6% or 31.3% of patients reported reduced or resolved PNES episodes, respectively. Further, this reduction and resolution of PNES episode were not affected by any psychological variable. CONCLUSIONS: Co-existing psychiatric disorders prevalence did not differ between patients with PNES-only and those with coexisting epilepsy. Further, co-existing psychiatric disorders characteristics did not reliably predict PNES episode duration, frequency, reduction, or resolution. For patients with PNES-only, the presence of co-existing psychiatric disorders did not predict the rate at which ASMs could be reduced or discontinued.

Clinical, radiologic, and pathologic features of the globular glial tauopathy subtype of frontotemporal lobar degeneration in right temporal variant frontotemporal dementia with salient features of Geschwind syndrome.

Globular Glial Tauopathy (GGT) is a rare form of Frontotemporal Lobar Degeneration (FTLD) consisting of 4-repeat tau globular inclusions in astrocytes and oligodendrocytes. We present the pathological findings of GGT in a previously published case of a 73-year-old woman with behavioral symptoms concerning for right temporal variant frontotemporal dementia with initial and salient features of Geschwind syndrome. Clinically, she lacked motor abnormalities otherwise common in previously published GGT cases. Brain MRI showed focal right anterior temporal atrophy (indistinguishable from five FTLD-TDP cases) and subtle ipsilateral white matter signal abnormalities. Brain autopsy showed GGT type III and Alzheimer's neuropathologic changes. .

Neuropathology of Perry Syndrome: Evidence of Medullary and Hypothalamic Involvement.

BACKGROUND: 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: To study the clinical and pathological correlations of an autopsy case of Perry syndrome. 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: 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. ß-Amyloid, Lewy body, and tau pathologies were absent. Rare axonal swelling was identified at the rostral ventrolateral medulla. CONCLUSIONS 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.