Adult-Onset Genetic Leukoencephalopathies With Movement Disorders

Genetic leukoencephalopathies (GLEs) are a group of white matter abnormalities with heterogeneous radiological and phenotypic features. Although these conditions have mostly been described in children, adult-onset cases are increasingly recognized owing to the widespread use of neuroimaging and advances in molecular genetic testing. The disease course is often progressive with a varied spectrum of presentations, trapping neurologists in the dilemma of differential diagnosis. Movement disorders are among the most common symptoms, and their diversity makes diagnosis challenging. In this review, we focus on adult-onset GLEs with movement disorders and offer a step-by-step diagnostic approach by clarifying the phenomenology of movement, advising investigations for acquired causes, describing the clinical and radiological clues to each disease, emphasizing the limitations of advanced molecular testing, and discussing the future application of artificial intelligence. We provide a list summarizing the leukoencephalopathies associated with different categories of movement disorders. In addition to guiding clinicians on how to narrow the list of differential diagnoses with the tools currently available, another aim of this review is to emphasize the inevitable trend toward applying advanced technology in diagnosing these difficult diseases.

Cheiro-oral syndrome: A reappraisal of the etiology and outcome

Objective: This is a review of our cases and published literature on cheiro-oral syndrome (COS), to better understand its localization, etiology and outcome. Methods: In addition to our database, we reviewed the medical database (including PUBMED, BIOSIS, EMBASE, and SCOPUS) and other sources, searched by the keyword of “cheiro-oral”. The defi nition of COS was a subjective or an objective sensory disturbance confi ned to the perioral area and the fi nger(s)/hand without a detectable abnormality in mental, motor or cerebellar function. Only cases of COS where the clinicoanatomic correlation could be identifi ed by neuroimaging study, autopsy or stereotatic surgery was included. Results: There were a total of 174 patients; 85 patients from our database, 76 patients from medical database, and 13 patients from other sources. They were 111 men and 63 women. Their age ranged from 12 to 85 years; average being 58.2 years. Stroke is the leading etiology and constituted 74% of the patients. The most common location of lesion was thalamus, followed by pons and cortex. Classical unilateral COS was seen in 81% of patients, atypical COS in 19%. Whereas the lesions were from cortex to cervical spinal cord in unilateral COS, atypical COS was associated with lesions in pons or medulla oblongata. An early deterioration was seen in 16.5% of patients, especially in large cortical infarction and subdural hemorrhage. Structural lesions were found in 85% of patients. Conclusion: Classical unilateral COS do not have a high localizing value, the atypical COS is associated with lesion in pons or medulla.