Danielle M Blake

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We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea)(More)
We studied 169 patients with motor neuron disease. Seventeen showed abnormal amplitude reduction of the compound muscle action potential. Ten had focal loss of both amplitude and area across a specific segment (conduction block). Eight of the 10 had slowing of conduction across that segment. Nine were men and had prominent hand involvement. Six had probable(More)
Among 40 patients with ragged red fibers in muscle biopsy, all but two met criteria for one of the recognized mitochondrial myopathies: Kearns-Sayre syndrome (6 patients); other ophthalmoplegias (17): MELAS (3); MERRF (2); limb myopathy (5); and exercise intolerance (3). Two patients had MNGIE (mitochondrial myopathy with neuropathy, gastrointestinal(More)
Scapuloperoneal syndromes are characterized by their distribution of muscle weakness and wasting. The reported pattern of inheritance has been variable. Both neurogenic and myopathic forms of autosomally dominantly inherited scapuloperoneal syndrome have been described. It has been suggested that these are variants of other neuromuscular diseases. We(More)
Although conduction block indicates dysfunction of peripheral nerve, it may occur in patients with clinically typical motor neuron disease. There are no universally accepted criteria to identify conduction block, so diagnosis may be difficult. In some peripheral neuropathies, conduction block persists over long periods of time. If conduction block persists(More)
OBJECTIVE To determine the prevalence of cochlear-facial dehiscence (CFD) and to examine the influence of otic capsule area, age, sex, and race on CFD. STUDY DESIGN Descriptive study of archived temporal bone specimens. MATERIALS AND METHODS Targeted sections from 1,020 temporal bone specimens were scanned and examined for CFD. Cochlear-facial partition(More)
Sinonasal and anterior skull base (ASB) schwannomas are rare entities. The majority of these lesions are found within the sinonasal tract, although some have intracranial extension via invasion of the ASB. Often, these tumors can be confused for other entities, especially olfactory groove meningiomas and esthesioneuroblastomas in the olfactory groove(More)
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