N Nadkarni

Publications (4)20.68 Total impact

• Article: Amyloidosis causing a progressive myopathy.

  N Nadkarni, M Freimer, J R Mendell
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  ABSTRACT: A 62-year-old woman developed profound weakness secondary to a progressive myopathy associated with primary systemic amyloidosis. The characteristic apple-green birefringent amyloid deposits were demonstrated surrounding individual muscle fibers in Congo red stained sections. Electron microscopy demonstrated amyloid filaments in close apposition to muscle fibers exhibiting excessive corrugations of the sarcolemmal membrane. The pathological features of progressive amyloid myopathy associated with primary systemic amyloidosis are distinct from the intracellular amyloid deposits characteristic of sporadic inclusion body myositis and inherited inclusion body myopathy.
  Muscle & Nerve 10/1995; 18(9):1016-8. · 2.37 Impact Factor
• Article: The impact of molecular genetics on the care of patients with muscle disease.

  N Nadkarni, T W Prior, J R Mendell
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  ABSTRACT: Clinical medicine is currently undergoing an enormous upheaval as a result of molecular genetics. Identifying the gene causing a specific disease almost immediately provides knowledge of the gene product and insight into pathogenesis. Mutations of the gene and measurable abnormalities of the gene product provide specific methods for diagnosis, prenatal counseling, and carrier detection. Perhaps, most importantly, new treatment strategies can be devised. In the review that follows, an update is provided on molecular findings in muscle diseases and how they can be applied in clinical practice.
  Current Opinion in Neurology 11/1994; 7(5):435-47. · 4.94 Impact Factor
• Article: Linkage mapping of the spinal muscular atrophy gene.

  A H Burghes, S E Ingraham, Z Kóte-Jarai, S Rosenfeld, N Herta, N Nadkarni, C J DiDonato, J Carpten, O Hurko, J Florence
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  ABSTRACT: Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at theta = O excluding two unlinked families, and Zmax = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closet centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.
  Human Genetics 04/1994; 93(3):305-12. · 5.07 Impact Factor
• Article: Guillain-Barré syndrome (GBS) with bilateral optic neuritis and central white matter disease.

  N Nadkarni, R P Lisak
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  ABSTRACT: A patient with acute Guillain-Barré syndrome (GBS), recovering following plasmapheresis, developed bilateral optic neuritis with extensive CNS white matter lesions on MRI. This illness was associated with Mycoplasma pneumoniae infection. The rare association of GBS with CNS disease raises a possibility of a shared pathogenic CNS and PNS epitope in these cases.
  Neurology 05/1993; 43(4):842-3. · 8.31 Impact Factor