ABSTRACT
Peripheral neuropathy is frequent in spinocerebellar ataxia type 2 (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue. This study aimed to evaluate the prevalence, extent, and distribution of nerve involvement in SCA2 patients through neurophysiological studies. Thirty-one SCA2 patients and 20 control subjects were enrolled in this study. All subjects were prospectively evaluated through electromyography, including nerve conduction, needle electromyography in proximal and distal muscles of the upper and lower limbs, and sural radial amplitude ratio (SRAR). We aimed to differentiate distal axonopathy from diffuse nerve commitment, characterizing neuronopathy. Nerve involvement was observed in 83.6 % (26 individuals) of SCA2 patients. Among these, 19 had diffuse sensory abnormalities on nerve conduction predominantly on the upper limbs, with diffuse chronic denervation on needle electromyography and elevated SRAR values. Four individuals had only diffuse sensory involvement, and 2 had only motor involvement on needle evaluation and normal nerve conduction. These were interpreted as neuronopathy due to the diffuse distribution of the involvement. One individual had distal sensory axonopathy, with lower limb predominance. In this study, we found neuronopathy as the main pattern of nerve involvement in SCA2 patients and that motor involvement is a frequent feature. This information brings new insights into the understanding of the pathophysiology of nerve involvement in SCA2 and sets some key points about the phenotype, which is relevant to guide the genetic/molecular diagnosis.
Subject(s)
Peripheral Nerves/physiopathology , Spinocerebellar Ataxias/physiopathology , Adult , Electromyography , Female , Humans , Lower Extremity/physiopathology , Male , Muscle, Skeletal/physiopathology , Neural Conduction , Neurophysiology , Phenotype , Prospective Studies , Sensation Disorders/etiology , Sensation Disorders/physiopathology , Spinocerebellar Ataxias/complications , Upper Extremity/physiopathologyABSTRACT
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia. In this neurological disease, anatomical, physiological, clinical, and functional neuroimaging demonstrate a degenerative process besides the cerebellum. We performed neurophysiological and neuroimaging studies-polysomnography, transcranial sonography, vestibular-evoked myogenic potential, single-photon emission computed tomography (SPECT) with (99m)Tc-TRODAT-1, and a formal neuropsychological evaluation in a patient with sleep complaints and positive testing for Machado-Joseph disease, without cerebellar atrophy, ataxia, or cognitive complaints. Polysomnography disclosed paradoxical high amplitude of submental muscle, characterizing REM sleep without atonia phenomenon. Transcranial sonography showed hyperechogenicity of the substantia nigra. There was an absence of vestibular-evoked myogenic potentials on both sides in the patient under study, in opposite to 20 healthy subjects. Brain imaging SPECT with (99m)Tc-TRODAT-1 demonstrated a significant lower DAT density than the average observed in six healthy controls. Electroneuromyography was normal. Neuropsychological evaluation demonstrated visuospatial and memory deficits. Impairment of midbrain cholinergic and pontine noradrenergic systems, dysfunction of the pre-synaptic nigrostriatal system, changes in echogenicity of the substantia nigra, and damage to vestibulo-cervical pathways are supposed to occur previous to cerebellar involvement in Machado-Joseph disease.
Subject(s)
Brain/pathology , Brain/physiopathology , Machado-Joseph Disease/complications , Machado-Joseph Disease/pathology , Neurophysiology , Sleep Wake Disorders/etiology , Adult , Brain/diagnostic imaging , Electroencephalography , Humans , Male , Organotechnetium Compounds , Polysomnography , Tomography, Emission-Computed, Single-Photon , Tropanes , Ultrasonography, Doppler, Transcranial , Vestibular Evoked Myogenic PotentialsABSTRACT
OBJECTIVE: To evaluate a group of spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) (SCA3/MJD) patients and assess whether there is an association between neuropathy and serum ferritin levels and restless legs syndrome (RLS). METHODS: Twenty-six SCA3/MJD patients underwent electromyography studies to check for neuropathy. Their serum ferritin levels were measured as well. These findings were evaluated based on the presence or not of RLS and its severity. RESULTS: The proportion of neuropathy in the RLS group was not significantly higher compared to the non-RLS group (23 vs. 15%, Fisher's exact test, p = 1.000). Furthermore, no association was found between RLS and ferritin levels. CONCLUSION: We found no correlation between neuropathy or ferritin levels and RLS in SCA3/MJD patients.
Subject(s)
Machado-Joseph Disease/complications , Machado-Joseph Disease/pathology , Peripheral Nerves/physiopathology , Restless Legs Syndrome/etiology , Restless Legs Syndrome/pathology , Adult , Confidence Intervals , Disability Evaluation , Electric Stimulation/methods , Electromyography , Female , Ferritins/blood , Humans , Machado-Joseph Disease/blood , Male , Middle Aged , Neural Conduction , Restless Legs Syndrome/blood , Severity of Illness IndexABSTRACT
The most frequent neurologic manifestations of hepatitis C virus infection include peripheral neuropathy axonal type and central nervous system (CNS) vasculitis. Affected patients usually have cryoglobulinemia and other signs of vasculitis. Demyelinating lesions, both central and peripheral are rarely described. We present a case of simultaneous peripheral nervous system and CNS demyelination that comes in relapsing episodes, with negative cryoglobulins.
