CSF autoimmune panel was negative but paraneoplastic panel demonstrated antibodies against P/Q Type calcium channel. Brain MRI was normal. The patient was diagnosed with autoimmune cerebellar ataxia and treated with IVIG and physical therapy, resulting in significant symptom improvement including resolution...
“Low-risk phenotypes” have a < 30% possibility of cancer, including cerebellar ataxia, meningoencephalitis, Neuromyelitis optica spectrum disorder, MOG antibody–associated disease, PERM (progressive encephalomyelitis with rigidity and myoclonus), and Isaac syndrome [[11], [12], [13], [14], [...
A pathogenic impact of anti-mGluR1 is also supported by molecular genetic findings linking mGluR1 dysfunction to cerebellar ataxia. Most importantly, autosomal recessive spinocerebellar ataxia-13 (SCA13) has been found to be caused by a complex homozygous mutation in the GRM1 gene encoding mGluR1 ...
described a novel immunoglobulin G (IgG) autoantibody (termed anti-Ca after the index case) targeting Rho GTPase-activating protein 26 (ARHGAP26, also termed GTPase regulator associated with focal adhesion kinase [GRAF], or oligophrenin-like protein 1 [OPHN1L]) in autoimmune cerebellar ataxia (...
Cerebellar - ataxia 33.3% 58.3% Brainstem symptoms At least one symptom 44.4% 58.3% Facial weakness 0 25% Dysphagia 11.1% 19.4% Dysarthria 22.2% 22.2% Ophthalmological 33.3% 33.3% MRI lesions Gadolinium enhancing lesions 44.4% 30.6% Single large tumor-like lesions 11.1% 5.6% Corpus callosum, ...
The term “PCD” is a misnomer as not all cases are paraneoplastic; the pathological mechanism is inflammation, not primary neurological degeneration; and some patients can have autoimmune ataxia without underlying cancer. Patients have cerebellar symptoms such as truncal or appendicular ataxia, diplopia...
Patients may present with acute or subacute onset of headache, encephalopathy, seizures, abnormal vision, weakness or numbness, postural tremor and cerebellar ataxia. GFAP astrocytopathy is usually corticocorticosteroid-responsive in the acute setting but may rarely require maintenance immunotherapy to ...
Patient 1 was a 66 year old man with merkel cell carcinoma who had subacute onset of ataxia with nausea. Initial MRI showed non enhancement cerebellar FLAIR changes. Paraneoplastic panel was negative in blood and CSF and seronegative PCD was diagnosed without response to immunosuppression. Eight ...
Persistent functional deficit in multiple sclerosis and autosomal dominant cerebellar ataxia is associated with axonal loss Brain, 118 (1995), pp. 1583-1592 CrossrefView in ScopusGoogle Scholar 6 CA Davie, GJ Barker, AJ Thompson, PS Tofts, WI McDonald, DH Miller 1H magnetic resonance spectroscopy...
Mesenchymal stem cell-secreted superoxide dismutase promotes cerebellar neuronal survival J. Neurochem., 114 (6) (2010), pp. 1569-1580 CrossrefView in ScopusGoogle Scholar [44] F. Cuascut, G. Hutton Stem cell-based therapies for multiple sclerosis: current perspectives Biomedicines, 7 (2) (201...