Addison's Disease in Association with Spastic Paraplegia

Penman, Robert W.

doi:10.1136/bmj.1.5170.402

Cited by 32 publications

(6 citation statements)

References 3 publications

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“…24 contain no reports of concurrent multiple sclerosis. Three cases of spastic paraplegia associated with Addison's disease have been reportedz5, 26 although the 1 sclerosisz7~ 28, 29. So far, 20 male cases have been nature of the paraplegia was not established by described.…”

Section: Discussionmentioning

confidence: 99%

Multiple Sclerosis and Autoimmune Diseases

Baker

Balla

Burger

et al. 1972

Australian and New Zealand Journal of Medicine

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Summary: Disease associations provide useful aetiological clues in relation to diseases of unknown causation; this holds particularly for auto‐immune disorders which tend to occur together in individuals and in related family members. Nine patients suffering from both multiple sclerosis and presumed auto‐immune disorder were found from a survey of case records of 326 patients with multiple sclerosis admitted to a large city hospital between 1955 and 1970. There was autoimmune disease affecting the thyroid gland in four cases, the stomach in two and the adrenal gland in one, and there were two cases of rheumatoid arthritis and one of pemphigus vulgaris. Such associations are relevant to the concept of an auto‐immune pathogenesis for multiple sclerosis, but with reservations based on the uncertain prevalence of these diseases in Australia and the ascertainment errors inherent in this type of study.

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Section: Discussionmentioning

confidence: 99%

Multiple Sclerosis and Autoimmune Diseases

Baker

Balla

Burger

et al. 1972

Australian and New Zealand Journal of Medicine

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“…Already in 1910 Addison’s disease associated with spastic paraplegia was described [ 22 ]. Familial Addison disease with or without spastic paraplegia was usually considered to be a variant of hereditary spastic paraplegia [ 23 , 24 ]. In 1976, an X-linked adult onset progressive myelopathy that was often associated with Addison’s disease was reported [ 25 ].…”

Section: Clinical Features Of X-aldmentioning

confidence: 99%

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Engelen

Kemp

Visser

et al. 2012

Orphanet J Rare Dis

465

500

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X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.

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“…A few reports suggest the possibility of an autosomal dominant inheritance (Penman, 1960) but this hypothesis is speculative being based on clinical reports only. What seems to us more important is the adequately documented occurrence of ALD and AMN in different generations of the same families Davis et al, 1979;Cltazot et al, 1979) to which one can add data from the old German literature (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…The evidence indicating that females could be affected is purely clinical without confirma tory evidence (Hewitt, 195 7;Penman, 1960). Characteristic features of AMN are spastic para paresis, distal polyneuropathy and.…”

Section: Discussionmentioning

confidence: 99%

Adrenomyeloneuropathy and Adrenoleukodystrophy in Two Brothers

Martin¹,

Dompas²,

Ceuterick³

et al. 1980

Eur Neurol

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A 19-year-old patient presented with spastic paraparesis and peripheral neuropathy without clinical or biochemical signs of adrenal insufficiency. The diagnosis of adrenomyeloneuropathy was supported by typical ultrastructural findings in peripheral nerve and endomysial nerve bundles and by a positive family history. Indeed his younger brother died at age 12 from a demyelinating disease of the central nervous system. Cutaneous nerve bundles and postmortem examination limited to the brain demonstrated features specific for adrenoleukodystrophy. The various features of both disorders are discussed. Their occurrence in the same sibship pleads strongly for a very close relationship.

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Addison's Disease in Association with Spastic Paraplegia

Cited by 32 publications

References 3 publications

Multiple Sclerosis and Autoimmune Diseases

Multiple Sclerosis and Autoimmune Diseases

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

Adrenomyeloneuropathy and Adrenoleukodystrophy in Two Brothers

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