Trans Assoc Am Physicians. 1982;95:126-34.

A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization.

Tucker WS Jr, Hubbard WH, Stryker TD, Morgan SW, Evans OB, Freemon FR, Theil GB.

Abstract

A new familial disorder, inherited as an autosomal dominant trait and characterized by dual features of neurologic degeneration and skeletal disorganization, is reported. The neurologic disease is a degenerative process of lower motor neurons and develops in middle age with progressive muscle weakness and ends in respiratory failure and premature death. Clinical examination, electromyography, and muscle biopsy with histochemical stains are diagnostic. The skeletal disorganization resembles Paget's disease of bone. It is characterized by polyostotic radiographic abnormalities, elevated serum alkaline phosphatase of bone origin, abnormal radioisotopic bone scan, elevated hydroxyprolinuria, and bone histology.

PMID:: 7182974; [PubMed - indexed for MEDLINE]

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Familial motor neuron disease: differing penetrance in large pedigrees. [J Neurol Sci. 1988]
Familial motor neuron disease: differing penetrance in large pedigrees.
Williams DB, Floate DA, Leicester J. J Neurol Sci. 1988 Sep; 86(2-3):215-30.
Paget's disease of bone: experience from a centre in southern India. [J Assoc Physicians India. 2006]
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Anjali, Thomas N, Rajaratnam S, Shanthly N, Oommen R, Seshadri MS. J Assoc Physicians India. 2006 Jul; 54:525-9.
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Colina M, La Corte R, De Leonardis F, Trotta F. Rheumatol Int. 2008 Sep; 28(11):1069-75. Epub 2008 Jul 1.
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Cited by 2 PubMed Central articles

Review Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. [Neuromuscul Disord. 2009]
Review Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Weihl CC, Pestronk A, Kimonis VE. Neuromuscul Disord. 2009 May; 19(5):308-15. Epub 2009 Apr 19.
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. [Am J Med Genet A. 2008]
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, et al. Am J Med Genet A. 2008 Mar 15; 146A(6):745-57.

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