Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology.

PURPOSE OF REVIEW: To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). RECENT FINDINGS: We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases. SUMMARY: FOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis-FTD spectrum.

A Case of Cervical Radiculopathy Presenting as Dystonic Tremor.

BACKGROUND: To our knowledge, this is the first case report of a cervical disc prolapse and foraminal stenosis presenting with dystonic tremor in addition to brachialgia. CASE DESCRIPTION: A 54-year-old, right-handed man presented with a dystonic tremor and aching throughout his right upper limb. Magnetic resonance imaging of the cervical spine revealed a disc osteophyte complex at C5/6 causing C6 foraminal impingement bilaterally in addition to a disc osteophyte complex at C6/C7 causing severe bilateral foraminal narrowing. Electromyography showed neurogenic changes consistent with chronic C6/7 radiculopathy. There was no response to numerous medical treatments for his dystonia or brachialgia. Computed tomography-guided right C6 and C7 root block led to complete but temporary resolution of all symptoms, including the dystonic tremor. Definitive treatment consisting of a C5/6 and C6/7 anterior cervical discectomy and fusion led to a complete, immediate, and continued resolution of his right-sided brachialgia and dystonic tremor. CONCLUSIONS: This case highlights the potential of cervical disc prolapse to present with dystonic tremor with the likely mechanism being secondary to the painful radiculopathy and highlights the potential benefits of surgical decompression with this atypical presentation.

Effects of amnesia on processing in the hippocampus and default mode network during a naturalistic memory task: A case study.

Despite their severely impaired episodic memory, individuals with amnesia are able to comprehend ongoing events. Online representations of a current event are thought to be supported by a network of regions centred on the posterior midline cortex (PMC). By contrast, episodic memory is widely believed to be supported by interactions between the hippocampus and these cortical regions. In this MRI study, we investigated the encoding and retrieval of real life-like events (video clips) in a patient with severe amnesia likely resulting from a stroke to the right (and possibly the left) thalamus, and a group of 20 age-matched controls. Structural MRI revealed grey matter reductions in left hippocampus and left thalamus in comparison to controls. We first characterised the regions activated in the controls while they watched and retrieved the videos. There were no differences in activation between the patient and controls in any of the regions. We then identified a widespread network of brain regions, including the hippocampus, that were functionally connected with the PMC in controls. However, in the patient there was a specific reduction in functional connectivity between the PMC and a region of left hippocampus when both watching and attempting to retrieve the videos. A follow up analysis of the control group revealed that, when watching the videos, the functional connectivity between these two regions was correlated with memory performance. Taken together, these findings support the view that the interactions between the PMC and the hippocampus enable the encoding and retrieval of naturalistic events.

Adult-onset NREM parasomnia with hypnopompic hallucinatory pain: a case report.

We report the case of a 43-year-old woman presenting with nocturnal episodes of pain and screaming during sleep starting at age 30. There was no childhood or family history of parasomnia. The events had gradually become more frequent over the years, occurring in the first half of the night within 2 h of sleep onset. There were no triggers, and she had partial amnesia for the events. A diagnosis of adult-onset sleep terrors was made on clinical grounds and supported polysomnographically. Seizures and periodic limb movements were excluded as triggering factors. There was some mild sleep disordered breathing (predominantly non-desaturating hypopnea with a propensity for REM sleep of debatable significance). Imaging of the brain and spine and neurophysiological investigations ruled out lesions, entrapments, or neuropathies as possible causes of pain. Treatment (clonazepam, paroxetine, or gabapentin) was poorly tolerated and made no difference to the nocturnal episodes, while trazodone worsened them. This is the first report of hypnopompic psychic pain in association with a NREM parasomnia. We hypothesize that the pain may represent a sensory hallucination analogous to the more commonly recognized visual NREM parasomnia-associated hypnopompic visual hallucinations and that, as such, it may arise during arousal of the sensory neocortex as confabulatory response.

Pelvic radiculopathies, lumbosacral plexopathies, and neuropathies in oncologic disease: a multidisciplinary approach to a diagnostic challenge.

The purpose of this article is to familiarize the reader with the anatomy of the major pelvic nerves and the clinical features of associated lumbosacral plexopathies. To demonstrate this we illustrate several cases of malignant lumbosacral plexopathy on computed tomography, magnetic resonance imaging, and positron emission tomography/computed tomography. A new lumbosacral plexopathy in a patient with a prior history of abdominal or pelvic malignancy is usually of malignant etiology. Biopsies may be required to definitively differentiate tumour from posttreatment fibrosis, and in cases of inconclusive sampling or where biopsies are not possible, follow-up imaging may be necessary. In view of the complexity of clinical findings often confounded by a history of prior surgery and/or radiotherapy, a multidisciplinary approach between oncologists, neurologists, and radiologists is often required for what can be a diagnostic challenge.

Late onset dopa-responsive dystonia with tremor, gait freezing and behavioural disturbance and a normal dopamine transporter scan.

A 79-year-old woman presented with dystonic posturing of the right leg while walking and an action tremor of her hands, both of which were levodopa responsive. She subsequently developed gait freezing. However, there was neither generalised bradykinesia nor rigidity. Structural imaging showed no significant changes, and a dopamine transporter scan was normal. She subsequently required rapidly escalating doses of levodopa in order to achieve symptom control, raising concerns over the possible development of a dopamine dysregulation syndrome. Issues raised included the difficulties of managing patients with a rare diagnosis and the role of dopaminergic medication with the potential for abuse.