Kathleen D Kennelly

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Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadic and 17 familial ALS patients ascertained at Mayo Clinic.(More)
OBJECTIVE To assess the safety, tolerability, and preliminary efficacy of NP001, a novel immune regulator of inflammatory monocytes/macrophages, for slowing progression of amyotrophic lateral sclerosis (ALS). METHODS This was a phase 2 randomized, double-blind, placebo-controlled trial of NP001 in 136 patients with ALS of <3 years' duration and forced(More)
We report a case of sudden onset of deep peroneal neuropathy resulting from a ganglion cyst. Electrophysiology demonstrated a severe deep peroneal neuropathy with axonal loss and probably proximal conduction block. Magnetic resonance imaging demonstrated a mass arising from the proximal tibiofibular joint extending along the peroneal nerve. Surgical(More)
We retrospectively investigated the co-occurrence of Crohn's disease in a cohort of 876 patients with Parkinson's disease, based on the observation that LRRK2 is a shared genetic risk factor. We identified 2 patients with Crohn's disease; this number was consistent with the number of cases expected in the general population.
This article is a general review of cranial nerve conduction studies, including techniques as well as interpretation of data. The needle examination of various cranial innervated muscles is also reviewed. The nerve conduction studies include the blink, masseter (jaw jerk), and masseter inhibitory reflexes, which evaluate the trigeminal (blink and jaw jerk)(More)
Our objectives were to 1) increase awareness of total laryngectomy (TL) as a treatment for complications of bulbar weakness in patients with amyotrophic lateral sclerosis (ALS) and outline specific surgical indications; 2) educate physicians about the surgical procedure, peri-operative course and benefits from having a TL; and 3) retrospectively review the(More)
The presence of afterdischarges on repetitive nerve stimulation may be useful to diagnose cramp fasciculation syndrome, however, the presence and normal duration of afterdischarges has not been well-defined in the normal population and individuals with other neuromuscular diseases. The aim of this pilot study was to describe the distribution of(More)
Proximal tibial neuropathy is an uncommon focal mononeuropathy that is most often caused by trauma, ischemia, or neoplastic infiltration or compression of the tibial nerve. We report a patient who presented with a tibial neuropathy following a leg injury, which initially mimicked a lumbosacral radiculopathy but which was the result of a proximal tibial(More)
Electromyographic (EMG) reporting of radiculopathies is not standardized, and the terminology used in reports can be misinterpreted by referring physicians. Physicians who refer patients for EMG studies at the Mayo Clinic were surveyed about their understanding of 6 different EMG interpretations of an S1 radiculopathy. Of 45 responders, the terms “acute,(More)