Dystonia + ataxia with brain iron accumulation on imaging? Don’t forget to keep SCA50 in the differential. https://loom.ly/ETrE17Q

New population-based study from Sweden: Maternal TS/CTD is linked to higher risks of gestational diabetes and both elective & emergency C-sections, highlighting important pregnancy and neonatal outcome associations. https://loom.ly/o5oUT8w

An interesting study by Wang and colleagues concludes that PD and MSA-P have compromised AQP4 polarization, impairing glymphatic function, which is consistent with the known neuroimaging changes demonstrated by free-water imaging. https://loom.ly/xpqlC8s

In this interesting study, Kersebaum and colleagues provide electrophysiological evidence of impaired central pain modulation in PD patients. The key finding is a reduced habituation to repetitive noxious stimuli. https://loom.ly/kIDB6Io

Interesting study on the metabolomic profile of prodromal and clinical Parkinson's disease. Key observation: metabolites linked to smoking, caffeine intake, and acetaminophen use were consistently associated with lower PD risk. https://loom.ly/MsOGytI

In this report from Spain, GPi-DBS in 10 children/adolescents with SGCE-rlated Myoclonus Dystonia led to significant improvement in myoclonus (68.1%), generalized dystonia (63.2%), and dystonia during writing (48.1%), walking (70.3%) and running (44.2%). https://loom.ly/sDSWeng

Measuring fronto-striatal function to rate mild cognitive impairment versus dementia requires the right clinical outcome assessment. The #COA tests recommended by an MDS expert panel have psychometric qualities that enable improved PD diagnosis and research. https://loom.ly/vUxrUPM#COA

A major finding from Kishore et al.’s study of 7,918 PD patients in India: the average age at onset (~54 years) is significantly younger than that reported in Western populations. https://loom.ly/44XBdEo

Because the true carrier frequency of ataxia-causing genes and degree of reduced penetrance are likely underestimated by the current MDSGene dataset, improving access to genetic testing in underserved regions globally should be prioritized. https://loom.ly/kD79Fn4

How common are sleep disorders in patients with RFC1-spectrum disorders? In the following study, Funcis and colleagues highlight that they are exceedingly common, with obstructive sleep apnea (OSA) being the most frequent. https://loom.ly/zyeMJrc

Interesting work by Prof. Taira and colleagues: unilateral FUS pallidothalamic tractotomy (PTT) in Parkinson’s disease showed short-term improvement in bilateral wearing-off and dyskinesia. It is presumably due to bilateral projections of the PTT. https://loom.ly/blNUF0c

In this excellent review article, the authors highlight the distinct neuroanatomical and temporal dynamics of the non-motor aspects of PD and explore the possibility of developing adaptive DBS for non-motor symptoms. A "must-read" article for DBS-enthusiasts! https://loom.ly/FCX82rw

In this insightful viewpoint article, the authors discuss the impact of the recent FDA decision to end the requirement for blood monitoring in clozapine use. https://loom.ly/_HJvQNg

Exciting results from Yska et al.: Hematopoietic stem cell transplantation halted disease progression in CSF1R-related disorder after 6 months post-transplantation, with impressive clinical and radiological improvements at a median follow-up of 2.5 years. https://loom.ly/SE3UXUE

An important study by Wong et al. on neuro-ichthyosis linked to biallelic ELOVL1 variants. In this hypomyelinating leukodystrophy, commonly observed abnormal movements included spasticity, head tremor, and myoclonus. movementdisorders.onlinelibrary.wiley.com/doi/10.1002/...

"This intriguing study explores abnormalities in the central motor network among Parkinson’s disease patients with camptocormia. Key finding: In PD patients with camptocormia, there is heightened central muscle drive to the paravertebral lumbar muscles." https://loom.ly/HtBwgBs

Could altered D1/D3 receptor dynamics be driving RLS and its augmentation? Clemens et al. explore this compelling angle in a thought-provoking viewpoint article. A "must-read" piece for RLS-enthusiasts! https://loom.ly/NVkJgMo

Wrigley et al. report clinicopathologic insights into PSP and its mimics: 83.5% (197/241) of autopsy-confirmed PSP cases had the correct clinical diagnosis. Most common mimics? Lewy body diseases, CBD, and MSA. https://loom.ly/enEtKVQ

No significant benefit of transcutaneous tibial nerve stimulation (1 Hz via Geko device) for overactive bladder in Parkinson’s disease, per phase II STRIPE trial. Maybe 1 Hz isn’t the sweet spot, and it’s worth exploring other settings/devices! https://loom.ly/K7VqFd4

Does CBD have a prodromal phase? Still an open question, but a fascinating case by Tai et al. showed progressive, asymmetric parietal atrophy on serial MRIs spanning a decade before the clinical diagnosis was made! https://loom.ly/VbRDHrY