Search tips
Search criteria 


Logo of jnnpsycJournal of Neurology, Neurosurgery and PsychiatryVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Neurol Neurosurg Psychiatry. 1986 December; 49(12): 1438–1440.
PMCID: PMC1029132

Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.


A family with adrenoleukodystrophy and clinical manifestations of spinocerebellar degeneration was studied. Two adult male first cousins showed progressive limb and truncal ataxia, slurred speech and spasticity of the extremities. Brain CT scans demonstrated atrophy of the pons and cerebellum, in both cases. Very long chain fatty acids in plasma and erythrocyte membranes were elevated in the affected patients and intermediately increased in an aunt and the mother of one patient, thereby indicating homozygotes and carriers of adrenoleukodystrophy, respectively. This unusual type of adrenoleukodystrophy seems to be transmitted as an X-linked recessive trait.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (417K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP., Jr Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol. 1975 Sep;32(9):577–591. [PubMed]
  • Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology. 1977 Dec;27(12):1107–1113. [PubMed]
  • Baker AB. [A tribute to Russell DeJong, founding Editor-in-chief]. Neurology. 1977 Jan;27(1):1–2. [PubMed]
  • Igarashi M, Schaumburg HH, Powers J, Kishmoto Y, Kolodny E, Suzuki K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem. 1976 Apr;26(4):851–860. [PubMed]
  • Moser HW, Moser AE, Singh I, O'Neill BP. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol. 1984 Dec;16(6):628–641. [PubMed]
  • Suzuki S, Kitaguchi T, Tabira T, Goto I, Kuroiwa Y. [Case of adrenoleukodystrophy presenting as spinocerebellar degeneration]. Rinsho Shinkeigaku. 1983 Aug;23(8):678–682. [PubMed]
  • Kobayashi T, Katayama M, Suzuki S, Tomoda H, Goto I, Kuroiwa Y. Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography. J Neurol. 1983;230(4):209–215. [PubMed]
  • Green PM. Chorea induced by oral contraceptives. Neurology. 1980 Oct;30(10):1131–1132. [PubMed]
  • Marsden CD, Obeso JA, Lang AE. Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration. Neurology. 1982 Sep;32(9):1031–1032. [PubMed]
  • Ohno T, Tsuchida H, Fukuhara N, Yuasa T, Harayama H, Tsuji S, Miyatake T. Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy. J Neurol. 1984;231(4):167–169. [PubMed]
  • Kuroda S, Hirano A, Yuasa S. Adrenoleukodystrophy-cerebello-brainstem dominant case. Acta Neuropathol. 1983;60(1-2):149–152. [PubMed]
  • Tateishi J, Sato Y, Suetsugu M, Takashiba T. Adrenoleukodystrophy with olivopontocerebellar atrophy-like lesions. Clin Neuropathol. 1986 Jan-Feb;5(1):34–39. [PubMed]
  • Brown FR, 3rd, Van Duyn MA, Moser AB, Schulman JD, Rizzo WB, Snyder RD, Murphy JV, Kamoshita S, Migeon CJ, Moser HW. Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids. Johns Hopkins Med J. 1982 Oct;151(4):164–172. [PubMed]
  • Moser HW, Tutschka PJ, Brown FR, 3rd, Moser AE, Yeager AM, Singh I, Mark SA, Kumar AA, McDonnell JM, White CL, 3rd, et al. Bone marrow transplant in adrenoleukodystrophy. Neurology. 1984 Nov;34(11):1410–1417. [PubMed]
  • Suzuki S, Kobayashi T, Goto I, Kuroiwa Y. Dietary treatment of adrenoleukodystrophy. Neurology. 1986 Jan;36(1):104–106. [PubMed]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group