Radiologic abnormalities of the lower cervical dural sac and spinal cord support the hypothesis that this disorder is a type of cervical myelopathy.

Juvenile muscular atrophy of the distal upper extremity (JMADUE, Hirayama disease) was first reported in 1959 as 'juvenile muscular atrophy of unilateral upper extremity'. Since then, similar patients in their teens or 20s have been described, under a variety of names, not only in Japan, but also in other Asian countries, as well as Europe and North America. Biomechanical abnormalities associated with JMADUE have recently been reported through various imaging examinations, proposing its disease mechanism. Since JMADUE differs from motor neuron disease, or spinal muscular atrophy, this disease entity should be more widely recognized, and early detection and effective treatments should be considered. We report an epidemiological study in Japan. Two nationwide questionnaire-based surveys, conducted in Japan from 1996 to 1998, identified 333 cases. The numbers of patients per year, distribution of ages at onset, mode of onset, time lapse between onset and quiescence, neurological signs and symptoms, imaging findings, and the effects of conservative treatments were analyzed. The peak age was 15 to 17 years, with a marked male preponderance, usually a slow onset and progression, and quiescence six or fewer years after onset. There was a predominantly unilateral hand and forearm involvement with 'cold paresis'. The imaging findings are described.

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practice parameter evaluating children with a first nonfebrile seizure, the authors recommended obtaining an EEG as a standard. 1 However, they failed to support this strong recommendation with appropriate evidence.The authors noted the importance of EEG for syndrome diagnosis. However, the class I pediatric studies cited do not support the utility of EEG for syndrome diagnosis at the time of the first seizure because they do not report the percentage of children in which clinically unsuspected epilepsy syndromes were reliably diagnosed. More importantly, they do not show that making a syndrome diagnosis in this setting improves patient outcomes.The authors overstate the importance of EEG data for assessing recurrence risk and long-term prognosis. EEG combined with other variables does help to identify those with high and low recurrence risk, but because all of the other variables are readily available clinical information, this is an inadequate justification for performing an EEG in all children with a first apparent seizure. It is more effective to use clinical data to select high-risk patients to test. 2 Regarding long-term prognosis, the presence or absence of epileptiform discharges on EEG at the onset of epilepsy does not predict the likelihood of seizure freedom at 2 years. 3 No data support the implication that treatment decisions based on EEG results improve patient outcomes. In the first unprovoked seizure studies cited, progressively fewer children were treated with anticonvulsants (68% in 1985, 61% in 1989, 14% in 1996, and 0% in 1998). In no study was there a significant difference in recurrence rates between those treated and untreated, nor has a recent randomized trial supported the notion that treatment is helpful after the first unprovoked seizure. It should also have been noted that despite EEG findings, there are data showing agreement between neurologists that treatment decisions may be poor.Finally, the authors neglected to mention data that raise questions about the interrater reliability of the visual interpretation of EEG and the stability of EEG findings over time. 4 Tests are valuable when they provide accurate information that is not already confirmed clinically, and when that information results in treatment decisions that improve patient outcomes. 5 EEG at first seizure does not meet this standard. In the absence of stronger evidence, it may be more effective to limit EEG to the subset of children whose seizures recur.Reply from the Author: I thank Tschampa et al. for their comments. I agree that extensive neuronal cell damage also contributes to increased levels of CSF tau. However, previous studies showed that in DLB brains, the structure of neocortex was preserved with less neuron loss compared with that in AD brains. 6 More DLB patients with mild tau pathology (Braak stages 1-2) and with mild neuron loss will need to be examined. DLB brains with neocortical tau pathology may be classified as DLB associated with AD. 6,7

Two Japanese male siblings, aged 68 and 59 years, affected by late-onset progressive ataxia distinguished by extensive sensory and mild autonomic disturbances are described. They had global thermoanalgesia, positive Romberg signs, sensorineural deafness, canal paresis and ageusia. Their autonomic disturbances consisted of absence of overflow tears with usual stimuli, dysphagia, blood pressure and vasomotor instability, diarrhoea/constipation, and urinary frequency. Sensory nerve action potentials were completely absent, whereas motor conduction velocity was slightly reduced only in the lower extremities. Sural nerve biopsy on the younger brother demonstrated a marked loss of myelinated fibres and a reduction in the number of unmyelinated axons. Tongue histology revealed absence of fungiform papillae and taste buds. Autonomic function tests showed widespread but mild sympathetic and parasympathetic failures. Neuro-imaging studies revealed atrophy of the spinal cord, cerebellum, brainstem and corpus callosum, and enlargement of the lateral, third and fourth ventricles. These siblings represent a previously unrecognized variant of late-onset hereditary spinocerebellar degeneration with global thermoanalgesia and absence of fungiform papillae on the tongue.