BNP levels in neurologic disease

2 uses
1. Document cadiac valvulopathy among patients exposed to pergolide
2. Document CHF in stroke patients ie possible need for anticoagulation and cardiac evaluation

SWEDDs non Parkinson's disease

4-15 % of patients entered into trials for PD had normal presynaptic nigrostriatal dopaminergic imaging and were termed "subjects with scans without evidence of dopaminergic deficits." (SWEDD's). Withdrawal of dopamine was nondeleterious and rescanning 4 years later continued to show no deficit. Case was presented of a subject with jerky assymmetric rest and action tremor, arm dystonia, hypomimia, increased limb tone, and slow repetitive finger movements. 3/10 had abnormal thumb extension (Froment's sign in this case), none had micrographia, and none had loss of sense of smell. True bradykinesia, as defined by progressive decrement of speed and amplitude of repetitive movement (decremental bradykinesia) was not present and should be contrasted to just slowing or hesitation of voluntary movement. The action tremor occurred as the arms were held up (postural tremor).

Blogger note: differential diagnosis could include corticobasal ganglionic degeneration, difference being more rapid progression in that condition, particularly if functional imaging is not done or not available.

Small, spastic furrowed tongue of Allgrove's syndrome

Houlden H. Neurology (Neuroimages) 2009; 72:1366.

35 yo with slowly progressive achalasia, alacrima, motor neuropathy, bulbar palsy, and a small furrowed tongue. Sister had same plus adrenal deficiency (triple A syndrome). DNA analysis of ALADIN gene confirmed.

Chronic progressive myeloneuropathies

Acquired
Nutritional deficiency-- B12, folate, vitamin E, copper, nitrous oxide deficiency with impaired
B12 metabolism, AIDS myelopathy with impaired B12 metabolism
Infectious-- HTLV I, AIDS, syphilis
Inflammatory- Sjogren's, sarcoid
Geographic - toxic-- cassova toxicity, lathyrism, fluorosis, subacute optico myeloneuropathy,
tropical myeloneuropathies
Toxic-- chemo ( cisplatin, cytarabine, intrathecal therapy, organophosphate
Genetic
With metabolic abnormality: adrenomyeloneuropathy, Krabbe disease, MLD, CTX, familial
vitamin E deficiency, abetalipoproteinemia, cobalamin and foalte metabolism defects,
respiratory chain defects, APBD
Without metabolic abnormalities: HSP, SCA


Evaluation:
vitamin B12, folate, vitamin E, calcium, glucose, TSH, alkphos, lactate, pyruvate, paraneoplastic screen, arylsulfatase A, beta galactosidase, peroxisomal screen ( VLCFA, pristanic acid, phytanic acid), ACE level, ceruloplasmin, copper, ANA, cyclic citrullinated peptide antibodies, SPEP, SIEP, lyme screen, VDRL, HIV, HTLV I/II, NMO IgG, SSA, antibodies to Gad 65, AST, ALT
CSF--cells, diff, MS panel, lyme titers, JC virus pcr, and paraneoplastic screen.

APBD Adult polyglucosan body disease

Neurology 2009; 72: 1609-1613 (CPC)
Jewish diseases with leukoencephalopathy:
APBD--Ashkenazi
megelencephalic encephalopathy with subcortical cysts-- Libyan
mitochondrial neurogastrointestinal encephalomyelopathy-- Ashkenazi and Libyan
cerebrotendinous xanthomatosis-- Moroccan
metachromatic leukodystrophy-- Yemenite
Canavan disease
mucolipidosis type IV

APBD-- uniquely occurs in 50 yo with CNS and PNS involvement
AR
diagnosis with skin.fibroblasts measurement of glycogen branching enzyme activity
Genetic spectrum well beyond Ashkenazi Jews. Allelic to type 4 glycogen storage disease. Unlike glycogen storage, liver is affected in kids.

Clinical
progressive late onset spastic paraparesis, progressive, neurogenic bladder, sensorimotor neuropathy with painful feet. Cognitive involvement even dementia is common.
CSF normal
MRI progressive involvement of hemisphere and PVWM, post limb of ic, brainstem tracts, sparing of corpus callosum and u fibers. Lesions are hyperintense on T2 and not enhancing. Atrophy of spinal cord is early and invariable. Sural nerve biopsy or axillary apocrine biopsy are diagnostic of polyglucosan bodies.