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.

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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.

The procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national). All subjects were provided with the approved informed consent. Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, slow saccadic eye movements and peripheral neuropathy. Atypical SCA2 phenotypes with prominent dementia, an amyotrophic lateral sclerosis-like presentation, and levodopa-responsive parkinsonism are also encountered 1 . The definite diagnosis of SCA2 is based on clinical symptoms and molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion of the ATXN2 gene on chromosome 12q1 . The protein synthesized by ATXN2 is known as ataxin-2 that is involved in RNA metabolism and translation regulation 1 . Herein we report an unusual case of SCA2 presenting as an ataxia-parkinsonism-motor neuron disease (MND) syndrome. CASEA 46-year-old Brazilian man of Italian ancestry, presented for consultation because of progressive gait instability and muscle cramps that started 18 months before. He also developed rapidly progressive muscle weakness few months before his first appointment. His family history revealed affected individuals (ataxia) within first and second generations. On neurological examination, there were mild dysarthria, slow saccades, mild limb and gait ataxia, parkinsonism, brisk reflexes and bilateral Babinski sign. He also presented muscle weakness in upper limbs, diffuse fasciculations and atrophy involving upper limbs, chest and face. Genetic testing confirmed the diagnosis of SCA2 with 40 CAG repeats. Brain magnetic resonance imaging (MRI) disclosed cerebellar and brainstem atrophy (Figure). Electroneuromyography showed denervation activity at rest, with fasciculation, fibrillation and positive sharp wave potentials in the bulbar, cervical, thoracic and lumbosacral regions. Nerve conduction studies showed normal sensory and motor nerve conduction velocities and reduced amplitudes of the motor potentials. We introduced riluzole 50 mg b.i.d. as treatment for amyotrophic lateral sclerosis (ALS). DISCUSSIONFew previous studies have described the association of SCA2 with MND. Infante et al.2 reported a case of a 61 years-old woman with SCA2 diagnosis who developed a levodopa-responsive parkinsonism after 6 months of the ataxia-onset of symptoms, but later on disease course Figure. Sagittal T 1 brain MRI disclosing cerebellar and brainstem atrophy. This imaging finding is frequently seen in SCA2.

Ginkgo biloba is a herbal medication that is often used worldwide. Although side effects are uncommon, G. biloba has been associated with serious bleeding complications, especially intracranial hemorrhage. We report the case of a young woman who made chronic use of G. biloba and suffered from cerebral bleeding without any structural abnormalities. Several studies have pointed to the association between G. biloba and intracranial hemorrhage.