@mdj-journal.bsky.social
Here is a large Dutch cohort study by Prooije and colleagues on SCA27B: https://loom.ly/JJFljvI
Key takeaways:
1) Core features appear with GAA 200–249 expansions;
2) episodic SCA27B can mimic stroke
3) ~50% show benefit from 4-aminopyridine.
Key takeaways:
1) Core features appear with GAA 200–249 expansions;
2) episodic SCA27B can mimic stroke
3) ~50% show benefit from 4-aminopyridine.
January 8, 2026 at 7:28 PM
Here is a large Dutch cohort study by Prooije and colleagues on SCA27B: https://loom.ly/JJFljvI
Key takeaways:
1) Core features appear with GAA 200–249 expansions;
2) episodic SCA27B can mimic stroke
3) ~50% show benefit from 4-aminopyridine.
Key takeaways:
1) Core features appear with GAA 200–249 expansions;
2) episodic SCA27B can mimic stroke
3) ~50% show benefit from 4-aminopyridine.
An outstanding review, along with related correspondence, that emphasizes the “second-hit hypothesis” in peripherally induced movement disorders. https://loom.ly/LFOXbng
January 2, 2026 at 6:12 PM
An outstanding review, along with related correspondence, that emphasizes the “second-hit hypothesis” in peripherally induced movement disorders. https://loom.ly/LFOXbng
Here is an insightful review by Lang and colleagues discussing LRRK2 as a potential disease-modifying target in sporadic Parkinson’s disease. https://loom.ly/41ob-eE
December 31, 2025 at 7:02 PM
Here is an insightful review by Lang and colleagues discussing LRRK2 as a potential disease-modifying target in sporadic Parkinson’s disease. https://loom.ly/41ob-eE
This study from Brazil found subclinical, predominantly restrictive respiratory dysfunction in Friedreich’s ataxia. Compared with controls, patients had lower O₂ saturation, FVC, and FEV₁. https://loom.ly/xomEySI
December 22, 2025 at 5:59 PM
This study from Brazil found subclinical, predominantly restrictive respiratory dysfunction in Friedreich’s ataxia. Compared with controls, patients had lower O₂ saturation, FVC, and FEV₁. https://loom.ly/xomEySI
In this clinical trial (PREMANDYSK) by Rascol and colleagues, early addition of 200 mg/day of amantadine IR to levodopa in patients with early PD, before the onset of motor complications, reduced the incidence of levodopa-induced dyskinesia by an average of 50%. https://loom.ly/gIMI7X0
December 2, 2025 at 8:33 PM
In this clinical trial (PREMANDYSK) by Rascol and colleagues, early addition of 200 mg/day of amantadine IR to levodopa in patients with early PD, before the onset of motor complications, reduced the incidence of levodopa-induced dyskinesia by an average of 50%. https://loom.ly/gIMI7X0
In this randomized, double-blind, placebo-controlled study, propranolol (titrated up to 240 mg/day) produced a significantly greater reduction in tremor than placebo in individuals with SCA12. https://loom.ly/zKIxli4
November 26, 2025 at 8:41 PM
In this randomized, double-blind, placebo-controlled study, propranolol (titrated up to 240 mg/day) produced a significantly greater reduction in tremor than placebo in individuals with SCA12. https://loom.ly/zKIxli4
Is constipation in Parkinson’s disease associated with a higher burden of neuroinflammation? In this study, Camacho & colleagues found that early-stage PD patients with constipation showed markedly greater uptake of microglial activation markers across multiple brain regions. https://loom.ly/NxlNkpo
November 24, 2025 at 8:21 PM
Is constipation in Parkinson’s disease associated with a higher burden of neuroinflammation? In this study, Camacho & colleagues found that early-stage PD patients with constipation showed markedly greater uptake of microglial activation markers across multiple brain regions. https://loom.ly/NxlNkpo
Digital health technology can measure symptom severity for gait, tremor, bradykinesia, etc. MDS's Technology Study Group systematically reviewed the application of these devices in clinical trials of levodopa, other PD drugs. https://loom.ly/Y3FT_9U
November 14, 2025 at 5:40 PM
Digital health technology can measure symptom severity for gait, tremor, bradykinesia, etc. MDS's Technology Study Group systematically reviewed the application of these devices in clinical trials of levodopa, other PD drugs. https://loom.ly/Y3FT_9U
Kaplan–Meier analysis supported strong predictive value of a concise patient-reported MDS-UPDRS for dopaminergic initiation in early PD, underscoring patients’ central role in clinical decisions involving functional limitations. #COAProgram https://loom.ly/HFNAJUE
November 5, 2025 at 6:52 PM
Kaplan–Meier analysis supported strong predictive value of a concise patient-reported MDS-UPDRS for dopaminergic initiation in early PD, underscoring patients’ central role in clinical decisions involving functional limitations. #COAProgram https://loom.ly/HFNAJUE
According to SynNeurGe criteria, the latest MDSGene literature review found that the PARK-RAB32 form of PD can be classified as S+ (evidence of synucleinopathy), N+ (neurodegeneration supported by imaging data), and GP+ (presence of a genetic variant).
https://loom.ly/RWajhfA
https://loom.ly/RWajhfA
October 28, 2025 at 8:55 PM
According to SynNeurGe criteria, the latest MDSGene literature review found that the PARK-RAB32 form of PD can be classified as S+ (evidence of synucleinopathy), N+ (neurodegeneration supported by imaging data), and GP+ (presence of a genetic variant).
https://loom.ly/RWajhfA
https://loom.ly/RWajhfA
Insightful article by Paparella and colleagues exploring the Bradykinesia complex (bradykinesia+ hypokinesia+ dysrhythmia+ sequence effect) in Parkinson's disease. https://loom.ly/FdlR_8g
October 22, 2025 at 2:07 PM
Insightful article by Paparella and colleagues exploring the Bradykinesia complex (bradykinesia+ hypokinesia+ dysrhythmia+ sequence effect) in Parkinson's disease. https://loom.ly/FdlR_8g
Great study by Wilken et al. showing that basal ganglia theta activity correlates with the onset of dyskinesia — a finding that could shape future adaptive DBS approaches. https://loom.ly/CgFd3AE
October 20, 2025 at 7:02 PM
Great study by Wilken et al. showing that basal ganglia theta activity correlates with the onset of dyskinesia — a finding that could shape future adaptive DBS approaches. https://loom.ly/CgFd3AE
Dystonia + ataxia with brain iron accumulation on imaging? Don’t forget to keep SCA50 in the differential. https://loom.ly/ETrE17Q
September 22, 2025 at 9:30 PM
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
September 10, 2025 at 6:03 PM
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
August 27, 2025 at 2:33 PM
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
August 25, 2025 at 6:57 PM
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
August 19, 2025 at 4:35 PM
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
August 7, 2025 at 4:05 PM
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
https://loom.ly/vUxrUPM
Attention/Working Memory and Executive Function in Parkinson's Disease: Review, Critique, and Recommendations
Background
Cognitive impairment in Parkinson's disease (PD) is a well-established non-motor complication that significantly affects the quality of life and well-being of both patients and care partn...
movementdisorders.onlinelibrary.wiley.com
August 6, 2025 at 11:07 PM
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
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
August 4, 2025 at 5:24 PM
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
https://loom.ly/kD79Fn4
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches
The landscape of genetic ataxias is influenced by migration, population genetics, consanguinity, and founder effects, resulting in significant regional variation. Within the expanding domain of genet...
movementdisorders.onlinelibrary.wiley.com
August 1, 2025 at 10:02 PM
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
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
July 28, 2025 at 6:31 PM
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
July 25, 2025 at 1:57 PM
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
July 23, 2025 at 4:58 PM
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
July 21, 2025 at 4:13 PM
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