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

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

Since clozapine is a highly effective antipsychotic for Parkinson’s disease-associated psychosis, this policy change could help expand access to a treatment that has long been underutilized in PD.

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

Note: Heterozygous ELOVL5 variants have been associated with spinocerebellar ataxia 38 (SCA 38) a disorder characterized by adult onset progressive ataxia, dysarthria, and nystagmus.

The triad of hypomyelinating leukodystrophy, ichthyosis, and a movement disorder appears to be unique to ELOVL1-related disorders.

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