Wednesday, November 13, 2019

Dermatomyositis with and without anti Mi2 autoantibodies

Pinal-Hernandez I, Mecoli CA, Casal-Dominguez M .  More prominent muscle involvement with dermatomyositis with anti Mi2 autoantibodies. Neurology; 2019; 93e1768-1777
(John Hopkins)

58 patients with antiMi2 positive DM
143 patient with anti Mi2 negative DM
162 patients with antisynthetase syndrome
170 patients with immune mediated necrotizing myopathy (IMNM).

Features of   patients with antiMi2 positive DM: more muscle weakness, less calcinosis , less interstitial lung disease, higher CK level but still stronger with lower CK's than pats with IMNM

Tuesday, February 07, 2017

Autoimmune meningoencephalitis associated with GFAP IgG antibodies.

Fung B et al.  Autoimmune glial fibrillary acidic protein astrocytopathy: a novel meningoencephalomyelitis.  JAMA Neurol 2016; 73: 1297.

Mayo labs has 134 cases out of 100,000 evaluated for autoimmune and paraneoplastic ab's as part of routine care.  Clinical presentation consists of headache, confusion, behavioral changes, lethargy, blurred vision, and trouble walking.  Exam can show papillitis, CN palsies, myelopathy.  CSF can show pleocytosis, highprotein, OCB'sm high IgG index.  MRI can show leptomeningeal enhancement, gyral enhancement.  At least half relapsed despite corticosteroids.  6/16 developed cancers

Steroid sparing therapy in neurosarcoidosis

Neurology 2016; 13:87:2517 Uncontrolled study of 40 patients with neurosarcoidosis, both central and peripheral nerve.  32 got MTX 20 mg per week, 14 got mycophenolate (MMF) at 2 grams per day (median) 6 had both drugs successively.  In MTX group, 15/32 (46 percent) relapsed v. 11/14 (79 %) in MMF group.  Median survival without relapse was 28 months in MTX group, 11 month in MMF group.  Of note steroid dose at initiation was 40 mg po daily in MTX group, and 20 mg in MMF group, a potential confound.  Both groups had high rates of relapse and better steroid sparing drugs are needed.

Tuesday, November 29, 2016

Biotinidase deficiency mimicking NMO: initiallyexhibiting symptoms in adulthood

Bottin L, Prud'honS, Giannesini C et al.  Multiple Sclerosis 21 (12) 1604-07 2015.  

Authors present first case of biotinidase deficiency presenting in young adulthood ; children and adolescents may present with vision loss and tetraparesis.  It was due in this case to a novel missense mutation and partly improved with oral biotin therapy.

Tuesday, November 08, 2016

Seropositive voltage gated calcium channels, utility

Jammoul A, Shayya L, Mente K et al.  Neurology Clinical Practice  2016; 6:409-418.

Authors differentiate "classic" group with limbic encephalitis or neuromyotonia (9.6% of total) and note the others had a panoply of diagnoses that were nonclassic.  The classic group was more likely to have high titers of ab, but there was overlap.  91 % of lcassic and 21 % of nonclassic had levels > 0.25 nM.  75 % of patietns in high level ab group had autoimmune disorders, and 75 % of patients with low level titers did not.  26 % of patients had a remote malignancy (active, remote, solid or hematologic) but not ab titer difference was noted among the groups .

Conclusions:  1.  High VGKC ab levels are found in patients with classic and other autoimmune disorderes,  Low level ab titers are seen in nonspecific and mostly nonautoimmune disorders

2.  The presence of VGKC antibodies rather than the level may serve as a marker of malignancy

Notes this is bad on a chart review of 6,032 patients who underwent evaluation .

The nonclassic group includes PNS and CNS diorders including neuropathy, dementia, ALS, CJD.  Some patietns had nonspecific symptoms such as stutering speech, nausea and vomting and orthostasis without diagnosis of neurologic disease.

Cancers were oftendiagnosed due towhole body CT/PET; 2 patietns had previously unknown cancer (Ovarian and lung).  Cancer occurred more commonly in those over age 45.  Many cases of ab finding were remote by over ten years from actual tumor.

Pearls about GQ1b

Serum and CSF GQ1 ab'sin isolated opthalmoplegic syndromes.  Spatola M, Du Pasquier R, Schluep M, et al.  Neurology 2016; 86:1780-1784


pearls about GQ1b from this article


1.  Antibodies are specific for Miller Fisher syndrome (MFS); unl;ike NMO-NMOSD, the use of the antibodies does not increase the spectrum of MFS substantially


2.  Measurement in CSF offers no additional value over serum


3.  Although ON (optic neuritis) can occur as part of the MFS, ISOLATED ON is NOT part of the MFS spectrum


4.  In acute opthalmoplegia, only 1/21 had positive antibodies but the antibodies occurred in 1/5 cases of AO of unknown etiology; therefore, the antibody may be useful as part of the evaluation of AO.  The cases with known etiology include diabetes, Tolosa Hunt and opsoclonus myoclonus


5. Low serum titers occur in several disorders and are markers of nonspecific damage to ocular motor nerve sheaths, while high concentrations are specific for MFS


6. IgG is the most relevant isotype antibody relevant for MFS, and GanglioCombi mixed IgM/IgG correlates well which makes it a viable alternative

Tuesday, September 27, 2016

code for chronic management labs


Wednesday, June 01, 2016

Froin's syndrome

CSF showing high protein, xanthochromia and hypercoagulation of CSF is pathognomonic and it can occur with blockage of CSF by a spinal cord mass or meningeal irritation from meningitis.

Tuesday, February 23, 2016

Orthostatic tremor - pearls

Hassan A, Ahlskog AE, Matsumotos JY.  Orthostatic tremor: clinical, electrophysiologic and treatment findings in 184 patients.  Neurology 2016; 86: 458-464.

The article is a Mayo series of 184 patients seen over 37 years. 

Definition: lower body tremor activated on standing, absent when seated or lying, improved by walking or leaning.  Patients report leg shaking, unsteadiness and imbalance.  Electrophysiologic findings are unique:  a 13-18 hz tremor of lower limbs or trunk. 

Demographics:  64 percent were female, mean age 59 years, (range 13-88) .  One hundred percent reported symptoms only when standing and absent while seated.  Descriptions included "imbalance, unsteadiness, weakness, 'funny feeling,' 'jelly legs,' leg tightness, pain, tremor, shakiness, or quivering.  Sixty percent of cases included the arms.  24 percent had falls.  28 percent had other types of tremors included ET, which could be associated with a response to alcohol.  Other associated tremors included head tremor  (1), handwriting tremor (2), functional (1), jaw tremor (1).  Forty percent had other neurologic diseases including Parkinson's and many others, degenerative or otherwise.  Nine patients had a family history of orthostatic tremor. 

Medication responsiveness occurred in 139 patients.  Sixty seven percent of medications prescribed did not demonstrate benefit.  The most efficacious was benzodiazepines, especially clonazepam, with 48 percent of patients so treated showing moderate or marked benefit.  Thirty three percent of patients given gabapentin showed mild or moderate benefit, with lower responses to valproate, primidone, levodopa (only 1/33 responding), and no benefit from anxiolytics or antidepressants.  The responsiveness to clonazepam diminished over time , and of those only a few, 16 got benefit from another drug, including gabapentin, valproic acid, propranolol, pramipexole, bromazepam, primidone, carbi-levodopa, and pregabalin.  Three patients underwent DBS and improved.

There was a high personal anf family history of PD (8.9 and 10.7 percent). 

EMG is easy and pathognomonic.  MRI's often show various types of white matter disease and occasional meningiomas.