ABSTRACT
Idiopathic neuropathy, now designated as chronic idiopathic axonal polyneuropathy (CIAP), is a major public health problem in the United States. The disorder affects an estimated 5-8 million Americans, comprising about one-third of patients with neuropathy, based on data from referral centers. Typically, patients develop symptoms in the sixth decade or older. The onset is insidious, with numbness, paresthesias, and pain appearing over months to years. Although strength is generally preserved, the sensory loss and pain can be disabling. The clinical approach to this condition has evolved in important ways over the years, enabling improved diagnosis and characterization of this population. Current work has focused on identifying modifiable risk factors that may be associated with idiopathic neuropathy. The results may suggest that an underlying mechanism such as oxidative stress contributes to the development of CIAP.
Subject(s)
Polyneuropathies , HumansSubject(s)
Edema/complications , Exophthalmos/complications , Eye/physiopathology , Miller Fisher Syndrome/complications , Edema/pathology , Exophthalmos/diagnostic imaging , Exophthalmos/drug therapy , Female , Humans , Immunoglobulins, Intravenous/therapeutic use , Middle Aged , Miller Fisher Syndrome/diagnostic imaging , Miller Fisher Syndrome/drug therapy , Tomography, X-Ray ComputedABSTRACT
A previously healthy 27-year-old woman developed a subacute myeloneuropathy after receiving nitrous oxide anesthesia for dental procedures. Neurologic evaluation revealed that she was vitamin B(12) deficient due to underlying pernicious anemia. Discontinuation of nitrous oxide and supplementation with vitamin B(12) resulted in dramatic clinical improvement, with near-complete normalization of her neurologic examination. This case and published reports reviewed here emphasize that favorable outcomes are possible following prompt recognition and treatment of vitamin B(12) deficiency.
Subject(s)
Anemia, Pernicious/physiopathology , Anesthetics, Inhalation/adverse effects , Nitrous Oxide/adverse effects , Peripheral Nervous System Diseases/chemically induced , Spinal Cord Diseases/chemically induced , Vitamin B 12 Deficiency/complications , Adult , Anemia, Pernicious/complications , Anemia, Pernicious/drug therapy , Female , Humans , Leg/innervation , Leg/physiopathology , Magnetic Resonance Imaging , Nerve Fibers, Myelinated/metabolism , Nerve Fibers, Myelinated/pathology , Peripheral Nervous System Diseases/metabolism , Peripheral Nervous System Diseases/physiopathology , Spinal Cord/metabolism , Spinal Cord/pathology , Spinal Cord/physiopathology , Spinal Cord Diseases/metabolism , Spinal Cord Diseases/physiopathology , Treatment Outcome , Vitamin B 12/pharmacology , Vitamin B 12/therapeutic use , Vitamin B 12 Deficiency/drug therapy , Vitamin B 12 Deficiency/metabolismABSTRACT
The spectrum of motor neuron diseases ranges from disorders that clinically are limited to lower motor neurons to those that exclusively affect upper motor neurons. Primary lateral sclerosis (PLS) is the designation for the syndrome of progressive upper motor neuron dysfunction when no other etiology is identified. Distinction between PLS and the more common amyotrophic lateral sclerosis (ALS) relies primarily on recognition of their symptoms and signs, as well as on ancillary, although non-specific, laboratory data. In this review, we survey the history of PLS from the initial descriptions to the present. We discuss the role of laboratory, electrodiagnostic, and imaging studies in excluding other diagnoses; the findings from major case series of PLS patients; and proposed diagnostic criteria. Consistent differences are evident in patients classified as PLS compared to those with ALS, indicating that, despite its limitations, this clinical designation retains important utility.
Subject(s)
Brain/physiopathology , Efferent Pathways/physiopathology , Motor Neuron Disease/diagnosis , Motor Neuron Disease/physiopathology , Motor Neurons/pathology , Age of Onset , Brain/pathology , Diagnosis, Differential , Disease Progression , Efferent Pathways/pathology , Genetic Predisposition to Disease/genetics , Humans , Pyramidal Tracts/pathology , Pyramidal Tracts/physiopathologyABSTRACT
OBJECTIVE: : The objective of this study was to characterize the clinical features and natural history of primary lateral sclerosis (PLS). BACKGROUND: : PLS is a motor neuron disorder defined by corticospinal and corticobulbar tract dysfunction without clinically significant lower motor neuron involvement. METHODS: : We collected data from 25 patients with PLS seen in 2 academic neurology departments over a 5-year period. RESULTS: : The PLS population represented approximately 3% of acquired motor neuron disease cases seen during that period. Twenty-three patients (92%) presented with lower limb weakness, spasticity, or difficulty with ambulation. None presented with upper limb symptoms. Eleven patients (44%) developed bulbar symptoms. All patients had hyperreflexia and increased muscle tone. Muscle weakness was observed in 15 patients (60%) and tended to be mild and asymmetric. Needle electromyography (EMG) was normal or showed only fasciculations in 15 patients (60%); 10 patients had features of mild active denervation, consisting of fibrillation or positive sharp wave potentials, but the extent of these findings did not satisfy World Federation of Neurology electrophysiological criteria for the diagnosis of amyotrophic lateral sclerosis. Fourteen patients (52%) continued independent ambulation. Of the 10 patients with active denervation on EMG, 6 (60%) required a walker, scooter, or wheelchair at a mean follow up of 6.2 years. There were no fatalities over the 5-year period. CONCLUSIONS: : Our experience supports the observation that PLS progresses more slowly than other forms of acquired motor neuron disease, particularly amyotrophic lateral sclerosis. Follow-up data suggest that patients with active denervation changes develop greater disability.