Gil was a fabulous friend, colleague and co-author. His epidemiological statistical acumen was deeply impressive as was his commitment to @NAF_Ataxia patients and clinician researchers. We miss him deeply already. The journey continues in his honor.

Senate is paying attention. FDA sunk Biohaven’s troriluzole yesterday, despite the fact that it slows progression compared to the natural history studies in the US and Europe, according to rigorous statistical analysis of real world evidence. https://t.co/2qet9lHZ1k

This is the letter the @WSJ just refused to publish because they did not “have space”. Another snub to @NAF_Ataxia patients and their needs, compounding their distress and the disgrace that is the @FDA @DrMakaryFDA

International collaboration showcased at the Clinical Trials in Ataxia (CTAX) meeting in Amsterdam. Clinicians, researchers, advocacy groups, pharma, regulators from US and Europe brainstorming about ways to treat and cure the neurodegenerative ataxias. @NAF_Ataxia @CureFA_org

Check out this forwarded post. It resonates. In my 3 KOL appearances before the neurology committee of the @US_FDA @DrMakaryFDA about troriluzole, have been stunned by their ignorance regarding ataxia, compounded by their arrogance and callous indifference. FDA is broken.

I just provided expert opinion to the @US_FDA committee on Biohaven’s troriluzole. This is going to have to escalate to @RFKJr_Official @HHSGov and @MartyMakary or a senate hearing. FDA is stonewalling a drug that is safe and effective for the US population of @NAF_Ataxia

But episodic memory is a ventral stream function beyond cerebellar control, which is why amnestic dementia is not part of CCAS.

Movement of a limb and movement of an idea (Hughlings Jackson) are action oriented and require cerebellar modulation. Executive control of recall requires active manipulation of stored information, reflects dorsal stream processing, and is part of CCAS.

More on what the dentate nucleus study in monkeys means for understanding the structure of cognition and its relevance for the cerebellar cognitive affective syndrome ( CCAS):

We also provide empirical evidence supporting our 1993 hypothesis that cerebellum is engaged in dorsal stream cognitive processing (where, action; DRST and CCST), but not ventral stream (what, object identification, recognition memory; delayed non-matching to sample task/DNMS).

Motor-cognitive dichotomy: Ventral dentate lesions impair working memory and cognitive flexibility - delayed recognition span task (DRST), conceptual set shifting task (CSST) that tap prefrontal cortical function; but spare motor function (Kuypers’ manual dexterity test)

This lesion-behavior study finally published after a long gestation. Electrolytic lesions of the dentate nuclei bilaterally in monkeys provide the first behavioral confirmation of two key dichotomies of cerebellar organization and function. https://t.co/RzYk9Dbklf

Please make good on this promise @DrMakaryFDA. Ensure @US_FDA approves troriluzole. Spinocerebellar patients / families are deteriorating, dying. You can stop this. FDA is failing them. The med is safe. Patients stabilize and improve. Real world evidence confirms. @NAF_Ataxia

Outreach and education: Genetic counselors and nurse practitioners joining ataxia centers of excellence, ataxia clinical training program for the next generation of ataxiologists, SCA Global coalescing international efforts in dominant and recessive ataxias.

Research advances: Imaging biomarkers for prediction / course evolution, fluid biomarkers, cerebellar atlases and imaging functional topography across domains, quantitative digital biomarkers as outcome measures in trials, CRC-SCA natural history study to understand ataxias.

Clinical continued: meds for tremor, dystonia, spasticity, neuropsychiatric meds for mental health, preimplantation genetics to stop intergenerational transmission, PROM-Ataxia and scales for cognition and neuropsychiatry

Advances in patient care: Key role of rehab interventions, definitive genetic diagnosis in >75% of inherited ataxias in our cohort, new meds including Skyclarys for FA, aminopyridine for SCA27B, troriluzole on the horizon for slowing SCAs if FDA gets their act together

At the @NAF_Ataxia New England Walk ‘n Roll today with patients, families and friends dealing with cerebellar disorders. Great turn-out, inspiring spirit and camaraderie. I shared brief updates on advances in patient care, research, and educational initiatives in the ataxias.

CCAS / Schmahmann scale: false positives reduced, 4.7% to 1.2% by 2nd try at forward / reverse digit span. 38% with cerebellar disorders remain Definite CCAS. Scores decline in older controls. https://t.co/PPwA8RB3Of @NAF_Ataxia @anpadirect @SfNtweets @AtaxiaUK @MGBResearchNews

SCA27B is among the most frequently encountered genetic ataxias. History and exam suggest the diagnosis, confirmed by FGF14 intronic GAA expansions. Aminopyridine is effective in >70% in our series. MRI supportive, not diagnostic. Comprehensive case summaries in the supplement.