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Postgrad Med J. Mar 2004; 80(941): 125–139.
PMCID: PMC1742955

Young onset dementia


Young onset dementia is a challenging clinical problem with potentially devastating medical and social consequences. The differential diagnosis is wide, and includes a number of rare sporadic and hereditary diseases. However, accurate diagnosis is often possible, and all patients should be thoroughly investigated to identify treatable processes. This review presents an approach to the diagnosis, investigation, and management of patients with young onset dementia, with particular reference to common and treatable causes.

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Selected References

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  • Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology. 2002 Jun 11;58(11):1615–1621. [PubMed]
  • Dalton CM, Brex PA, Jenkins R, Fox NC, Miszkiel KA, Crum WR, O'Riordan JI, Plant GT, Thompson AJ, Miller DH. Progressive ventricular enlargement in patients with clinically isolated syndromes is associated with the early development of multiple sclerosis. J Neurol Neurosurg Psychiatry. 2002 Aug;73(2):141–147. [PMC free article] [PubMed]
  • Wenger David A, Coppola Stephanie, Liu Shu-Ling. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol. 2003 Mar;60(3):322–328. [PubMed]
  • Schapira AHV. Primary and secondary defects of the mitochondrial respiratory chain. J Inherit Metab Dis. 2002 May;25(3):207–214. [PubMed]
  • Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235–239. [PubMed]
  • Holland AJ, Oliver C. Down's syndrome and the links with Alzheimer's disease. J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):111–114. [PMC free article] [PubMed]
  • Mann DM, Iwatsubo T, Nochlin D, Sumi SM, Levy-Lahad E, Bird TD. Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families. Ann Neurol. 1997 Jan;41(1):52–57. [PubMed]
  • Hardy John, Selkoe Dennis J. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science. 2002 Jul 19;297(5580):353–356. [PubMed]
  • Lovestone S, McLoughlin DM. Protein aggregates and dementia: is there a common toxicity? J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):152–161. [PMC free article] [PubMed]
  • Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, Nee LE, St George-Hyslop P, Pollen DA, Drachman DA. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Ann Neurol. 2000 Sep;48(3):376–379. [PubMed]
  • Queralt R, Ezquerra M, Lleó A, Castellví M, Gelpí J, Ferrer I, Acarín N, Pasarín L, Blesa R, Oliva R. A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):266–269. [PMC free article] [PubMed]
  • Kennedy AM, Newman SK, Frackowiak RS, Cunningham VJ, Roques P, Stevens J, Neary D, Bruton CJ, Warrington EK, Rossor MN. Chromosome 14 linked familial Alzheimer's disease. A clinico-pathological study of a single pedigree. Brain. 1995 Feb;118(Pt 1):185–205. [PubMed]
  • O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, Rossor MN, Hutchinson M. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. Neurology. 2002 Oct 8;59(7):1108–1110. [PubMed]
  • Fox NC, Scahill RI, Crum WR, Rossor MN. Correlation between rates of brain atrophy and cognitive decline in AD. Neurology. 1999 May 12;52(8):1687–1689. [PubMed]
  • Fox NC, Warrington EK, Seiffer AL, Agnew SK, Rossor MN. Presymptomatic cognitive deficits in individuals at risk of familial Alzheimer's disease. A longitudinal prospective study. Brain. 1998 Sep;121(Pt 9):1631–1639. [PubMed]
  • Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998 Dec;51(6):1546–1554. [PubMed]
  • Rosso Sonia M, van Swieten John C. New developments in frontotemporal dementia and parkinsonism linked to chromosome 17. Curr Opin Neurol. 2002 Aug;15(4):423–428. [PubMed]
  • Knopman DS, Mastri AR, Frey WH, 2nd, Sung JH, Rustan T. Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology. 1990 Feb;40(2):251–256. [PubMed]
  • Rossor MN, Revesz T, Lantos PL, Warrington EK. Semantic dementia with ubiquitin-positive tau-negative inclusion bodies. Brain. 2000 Feb;123(Pt 2):267–276. [PubMed]
  • Josephs Keith A, Holton Janice L, Rossor Martin N, Braendgaard Hans, Ozawa Tetsutaro, Fox Nick C, Petersen Ronald C, Pearl Gary S, Ganguly Milan, Rosa Pedro, et al. Neurofilament inclusion body disease: a new proteinopathy? Brain. 2003 Oct;126(Pt 10):2291–2303. [PubMed]
  • Miller BL, Darby A, Benson DF, Cummings JL, Miller MH. Aggressive, socially disruptive and antisocial behaviour associated with fronto-temporal dementia. Br J Psychiatry. 1997 Feb;170:150–154. [PubMed]
  • Garrard P, Hodges JR. Semantic dementia: clinical, radiological and pathological perspectives. J Neurol. 2000 Jun;247(6):409–422. [PubMed]
  • Chan D, Fox NC, Scahill RI, Crum WR, Whitwell JL, Leschziner G, Rossor AM, Stevens JM, Cipolotti L, Rossor MN. Patterns of temporal lobe atrophy in semantic dementia and Alzheimer's disease. Ann Neurol. 2001 Apr;49(4):433–442. [PubMed]
  • Rosen Howard J, Perry Richard J, Murphy Jennifer, Kramer Joel H, Mychack Paula, Schuff Norbert, Weiner Michael, Levenson Robert W, Miller Bruce L. Emotion comprehension in the temporal variant of frontotemporal dementia. Brain. 2002 Oct;125(Pt 10):2286–2295. [PubMed]
  • Turner RS, Kenyon LC, Trojanowski JQ, Gonatas N, Grossman M. Clinical, neuroimaging, and pathologic features of progressive nonfluent aphasia. Ann Neurol. 1996 Feb;39(2):166–173. [PubMed]
  • Bak TH, O'Donovan DG, Xuereb JH, Boniface S, Hodges JR. Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neurone disease-dementia-aphasia syndrome. Brain. 2001 Jan;124(Pt 1):103–120. [PubMed]
  • McKeith Ian G. Dementia with Lewy bodies. Br J Psychiatry. 2002 Feb;180:144–147. [PubMed]
  • Gusella JF, MacDonald ME, Ambrose CM, Duyao MP. Molecular genetics of Huntington's disease. Arch Neurol. 1993 Nov;50(11):1157–1163. [PubMed]
  • Harper PS. The epidemiology of Huntington's disease. Hum Genet. 1992 Jun;89(4):365–376. [PubMed]
  • Paulsen JS, Ready RE, Hamilton JM, Mega MS, Cummings JL. Neuropsychiatric aspects of Huntington's disease. J Neurol Neurosurg Psychiatry. 2001 Sep;71(3):310–314. [PMC free article] [PubMed]
  • Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci. 2001;24:519–550. [PubMed]
  • Carrell RW, Lomas DA. Conformational disease. Lancet. 1997 Jul 12;350(9071):134–138. [PubMed]
  • Brown P, Preece M, Brandel JP, Sato T, McShane L, Zerr I, Fletcher A, Will RG, Pocchiari M, Cashman NR, et al. Iatrogenic Creutzfeldt-Jakob disease at the millennium. Neurology. 2000 Oct 24;55(8):1075–1081. [PubMed]
  • Will RG, Ironside JW, Zeidler M, Cousens SN, Estibeiro K, Alperovitch A, Poser S, Pocchiari M, Hofman A, Smith PG. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet. 1996 Apr 6;347(9006):921–925. [PubMed]
  • Collinge John, Brandner Sebastian, Kennedy Angus, Rossor Martin, Smith Peter, Stevens John, Rudge Peter. A 38-year-old man with a 9 month history of neurological and cognitive impairment. Lancet Neurol. 2003 Mar;2(3):189–194. [PubMed]
  • Collie DA, Sellar RJ, Zeidler M, Colchester AC, Knight R, Will RG. MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol. 2001 Sep;56(9):726–739. [PubMed]
  • Hill AF, Butterworth RJ, Joiner S, Jackson G, Rossor MN, Thomas DJ, Frosh A, Tolley N, Bell JE, Spencer M, et al. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999 Jan 16;353(9148):183–189. [PubMed]
  • Chui H. Vascular dementia, a new beginning: shifting focus from clinical phenotype to ischemic brain injury. Neurol Clin. 2000 Nov;18(4):951–978. [PubMed]
  • Schott JM, Crutch SJ, Fox NC, Warrington EK. Development of selective verbal memory impairment secondary to a left thalamic infarct: a longitudinal case study. J Neurol Neurosurg Psychiatry. 2003 Feb;74(2):255–257. [PMC free article] [PubMed]
  • Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Diagnostic strategies in CADASIL. Neurology. 2002 Oct 22;59(8):1134–1138. [PubMed]
  • Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, Domenga V, Cécillon M, Vahedi K, Ducros A, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet. 2001 Dec 15;358(9298):2049–2051. [PubMed]
  • Mead S, James-Galton M, Revesz T, Doshi RB, Harwood G, Pan EL, Ghiso J, Frangione B, Plant G. Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings. Brain. 2000 May;123(Pt 5):975–991. [PubMed]
  • Revesz Tamas, Holton Janice L, Lashley Tammaryn, Plant Gordon, Rostagno Agueda, Ghiso Jorge, Frangione Blas. Sporadic and familial cerebral amyloid angiopathies. Brain Pathol. 2002 Jul;12(3):343–357. [PubMed]
  • Scolding NJ, Jayne DR, Zajicek JP, Meyer PA, Wraight EP, Lockwood CM. Cerebral vasculitis--recognition, diagnosis and management. QJM. 1997 Jan;90(1):61–73. [PubMed]
  • Tuck RR, Brew BJ, Britton AM, Loewy J. Alcohol and brain damage. Br J Addict. 1984 Sep;79(3):251–259. [PubMed]
  • Victor M. Alcoholic dementia. Can J Neurol Sci. 1994 May;21(2):88–99. [PubMed]
  • DeSousa Eduardo Adonias, Albert Ross H, Kalman Bernadette. Cognitive impairments in multiple sclerosis: a review. Am J Alzheimers Dis Other Demen. 2002 Jan-Feb;17(1):23–29. [PubMed]
  • Bobholz Julie A, Rao Stephen M. Cognitive dysfunction in multiple sclerosis: a review of recent developments. Curr Opin Neurol. 2003 Jun;16(3):283–288. [PubMed]
  • Wesselingh SL, Thompson KA. Immunopathogenesis of HIV-associated dementia. Curr Opin Neurol. 2001 Jun;14(3):375–379. [PubMed]
  • Sacktor NC, Skolasky RL, Lyles RH, Esposito D, Selnes OA, McArthur JC. Improvement in HIV-associated motor slowing after antiretroviral therapy including protease inhibitors. J Neurovirol. 2000 Feb;6(1):84–88. [PubMed]
  • Pfeil SA, Lynn DJ. Wilson's disease: copper unfettered. J Clin Gastroenterol. 1999 Jul;29(1):22–31. [PubMed]
  • Gultekin SH, Rosenfeld MR, Voltz R, Eichen J, Posner JB, Dalmau J. Paraneoplastic limbic encephalitis: neurological symptoms, immunological findings and tumour association in 50 patients. Brain. 2000 Jul;123(Pt 7):1481–1494. [PubMed]
  • Chong Ji Y, Rowland Lewis P, Utiger Robert D. Hashimoto encephalopathy: syndrome or myth? Arch Neurol. 2003 Feb;60(2):164–171. [PubMed]
  • Collin P, Pirttilä T, Nurmikko T, Somer H, Erilä T, Keyriläinen O. Celiac disease, brain atrophy, and dementia. Neurology. 1991 Mar;41(3):372–375. [PubMed]
  • Schott JM, Harkness K, Barnes J, della Rocchetta A Incisa, Vincent A, Rossor MN. Amnesia, cerebral atrophy, and autoimmunity. Lancet. 2003 Apr 12;361(9365):1266–1266. [PubMed]
  • Talerico KA, Evans LK. Responding to safety issues in frontotemporal dementias. Neurology. 2001 Jun;56(11 Suppl 4):S52–S55. [PubMed]
  • Høgh P, Smith SJ, Scahill RI, Chan D, Harvey RJ, Fox NC, Rossor MN. Epilepsy presenting as AD: neuroimaging, electroclinical features, and response to treatment. Neurology. 2002 Jan 22;58(2):298–301. [PubMed]
  • Pijnenburg YAL, Sampson EL, Harvey RJ, Fox NC, Rossor MN. Vulnerability to neuroleptic side effects in frontotemporal lobar degeneration. Int J Geriatr Psychiatry. 2003 Jan;18(1):67–72. [PubMed]
  • Wolozin B, Kellman W, Ruosseau P, Celesia GG, Siegel G. Decreased prevalence of Alzheimer disease associated with 3-hydroxy-3-methyglutaryl coenzyme A reductase inhibitors. Arch Neurol. 2000 Oct;57(10):1439–1443. [PubMed]
  • Loscalzo Joseph. Homocysteine and dementias. N Engl J Med. 2002 Feb 14;346(7):466–468. [PubMed]
  • McKeith I, Del Ser T, Spano P, Emre M, Wesnes K, Anand R, Cicin-Sain A, Ferrara R, Spiegel R. Efficacy of rivastigmine in dementia with Lewy bodies: a randomised, double-blind, placebo-controlled international study. Lancet. 2000 Dec 16;356(9247):2031–2036. [PubMed]
  • Erkinjuntti Timo, Kurz Alexander, Gauthier Serge, Bullock Roger, Lilienfeld Sean, Damaraju ChandrasekharRao Venkata. Efficacy of galantamine in probable vascular dementia and Alzheimer's disease combined with cerebrovascular disease: a randomised trial. Lancet. 2002 Apr 13;359(9314):1283–1290. [PubMed]
  • Pasquier F, Lebert F, Lavenu I, Guillaume B. The clinical picture of frontotemporal dementia: diagnosis and follow-up. Dement Geriatr Cogn Disord. 1999;10 (Suppl 1):10–14. [PubMed]
  • Wilcock Gordon K. Memantine for the treatment of dementia. Lancet Neurol. 2003 Aug;2(8):503–505. [PubMed]
  • Schott Jonathan M, Simon Jessica E, Fox Nick C, King Andrew P, Khan M Nadeem, Cipolotti Lisa, Paviour Dominic C, Stevens John M, Rossor Martin N. Delineating the sites and progression of in vivo atrophy in multiple system atrophy using fluid-registered MRI. Mov Disord. 2003 Aug;18(8):955–958. [PubMed]
  • Soliveri P, Monza D, Paridi D, Radice D, Grisoli M, Testa D, Savoiardo M, Girotti F. Cognitive and magnetic resonance imaging aspects of corticobasal degeneration and progressive supranuclear palsy. Neurology. 1999 Aug 11;53(3):502–507. [PubMed]
  • Emre Murat. Dementia associated with Parkinson's disease. Lancet Neurol. 2003 Apr;2(4):229–237. [PubMed]
  • Schielke E, Nolte C, Müller W, Brück W. Sarcoidosis presenting as rapidly progressive dementia: clinical and neuropathological evaluation. J Neurol. 2001 Jun;248(6):522–524. [PubMed]
  • Oktem-Tanör O, Baykan-Kurt B, Gürvit IH, Akman-Demir G, Serdaroğlu P. Neuropsychological follow-up of 12 patients with neuro-Behçet disease. J Neurol. 1999 Feb;246(2):113–119. [PubMed]
  • Roos KL. Mycobacterium tuberculosis meningitis and other etiologies of the aseptic meningitis syndrome. Semin Neurol. 2000;20(3):329–335. [PubMed]
  • Manzel K, Tranel D, Cooper G. Cognitive and behavioral abnormalities in a case of central nervous system Whipple disease. Arch Neurol. 2000 Mar;57(3):399–403. [PubMed]
  • Fallon BA, Nields JA. Lyme disease: a neuropsychiatric illness. Am J Psychiatry. 1994 Nov;151(11):1571–1583. [PubMed]
  • Mawrin C, Lins H, Koenig B, Heinrichs T, Murayama S, Kirches E, Boltze C, Dietzmann K. Spatial and temporal disease progression of adult-onset subacute sclerosing panencephalitis. Neurology. 2002 May 28;58(10):1568–1571. [PubMed]
  • Krupp LB, Lipton RB, Swerdlow ML, Leeds NE, Llena J. Progressive multifocal leukoencephalopathy: clinical and radiographic features. Ann Neurol. 1985 Apr;17(4):344–349. [PubMed]
  • Ernst A, Zibrak JD. Carbon monoxide poisoning. N Engl J Med. 1998 Nov 26;339(22):1603–1608. [PubMed]
  • Visvanathan R. Is it truly dementia? Lancet. 2001 Mar 3;357(9257):684–684. [PubMed]
  • Caviness John N, Evidente Virgilio G H. Cortical myoclonus during lithium exposure. Arch Neurol. 2003 Mar;60(3):401–404. [PubMed]
  • Moulignier Antoine, Allo Stephanie, Zittoun Robert, Gout Oliver. Recombinant interferon-alpha-induced chorea and frontal subcortical dementia. Neurology. 2002 Jan 22;58(2):328–330. [PubMed]
  • Vigliani MC, Duyckaerts C, Hauw JJ, Poisson M, Magdelenat H, Delattre JY. Dementia following treatment of brain tumors with radiotherapy administered alone or in combination with nitrosourea-based chemotherapy: a clinical and pathological study. J Neurooncol. 1999 Jan;41(2):137–149. [PubMed]
  • Steiner MC, Ward MJ, Ali NJ. Dementia and snoring. Lancet. 1999 Jan 16;353(9148):204–204. [PubMed]
  • Jordan BD. Chronic traumatic brain injury associated with boxing. Semin Neurol. 2000;20(2):179–185. [PubMed]
  • Rosso SM, Kamphorst W, de Graaf B, Willemsen R, Ravid R, Niermeijer MF, Spillantini MG, Heutink P, van Swieten JC. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain. 2001 Oct;124(Pt 10):1948–1957. [PubMed]
  • Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 Dec;74(4):458–475. [PubMed]
  • Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, et al. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology. 2002 Nov 26;59(10):1585–1594. [PubMed]
  • Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA. 2000 Oct 4;284(13):1664–1669. [PubMed]
  • Takahashi H, Ohama E, Naito H, Takeda S, Nakashima S, Makifuchi T, Ikuta F. Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology. 1988 Jul;38(7):1065–1070. [PubMed]
  • Rampoldi Luca, Danek Adrian, Monaco Anthony P. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med (Berl) 2002 Aug;80(8):475–491. [PubMed]
  • Bradshaw CB, Davis RL, Shrimpton AE, Holohan PD, Rea CB, Fieglin D, Kent P, Collins GH. Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies. Arch Neurol. 2001 Sep;58(9):1429–1434. [PubMed]
  • Buttmann M, Marziniak M, Toyka KV, Sommer C, Altland K. "Sporadic" familial amyloidotic polyneuropathy in a German patient with B cell lymphocytic leukaemia. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):86–87. [PMC free article] [PubMed]
  • Hayflick Susan J, Westaway Shawn K, Levinson Barbara, Zhou Bing, Johnson Monique A, Ching Katherine H L, Gitschier Jane. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003 Jan 2;348(1):33–40. [PubMed]
  • Bürk K, Globas C, Bösch S, Klockgether T, Zühlke C, Daum I, Dichgans J. Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3. J Neurol. 2003 Feb;250(2):207–211. [PubMed]
  • Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000 May;123(Pt 5):908–919. [PubMed]
  • Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990 Dec;117(6):897–902. [PubMed]
  • Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT. The vascular dementia of Fabry's disease. Dement Geriatr Cogn Disord. 1997 Jul-Aug;8(4):252–257. [PubMed]
  • Chavany C, Jendoubi M. Biology and potential strategies for the treatment of GM2 gangliosidoses. Mol Med Today. 1998 Apr;4(4):158–165. [PubMed]
  • Jardim LB, Giugliani R, Pires RF, Haussen S, Burin MG, Rafi MA, Wenger DA. Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Arch Neurol. 1999 Aug;56(8):1014–1017. [PubMed]
  • Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GTN, Wraith JE. Niemann-Pick disease type C in adults. J Inherit Metab Dis. 2002 Oct;25(6):491–500. [PubMed]
  • Cengiz N, Ozbenli T, Onar M, Yildiz L, Ertaş B. Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family. Acta Neurol Scand. 2002 Jun;105(6):454–457. [PubMed]
  • Tüzün E, Baykan B, Gürses C, Gökyigit A. Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a. Seizure. 2000 Oct;9(7):469–472. [PubMed]
  • Nijssen Peter C G, Brusse Esther, Leyten Antonius C M, Martin JJ, Teepen Johannes L J M, Roos Raymund A C. Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction. Mov Disord. 2002 May;17(3):482–487. [PubMed]
  • Palmeri S, Villanova M, Malandrini A, van Diggelen OP, Huijmans JG, Ceuterick C, Rufa A, DeFalco D, Ciacci G, Martin JJ, et al. Type I sialidosis: a clinical, biochemical and neuroradiological study. Eur Neurol. 2000;43(2):88–94. [PubMed]
  • Koeppen Arnulf H, Robitaille Yves. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 2002 Sep;61(9):747–759. [PubMed]
  • Edwin D, Speedie L, Naidu S, Moser H. Cognitive impairment in adult-onset adrenoleukodystrophy. Mol Chem Neuropathol. 1990 Jun;12(3):167–176. [PubMed]
  • Minassian Berge A. Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. Adv Neurol. 2002;89:199–210. [PubMed]
  • Klein CM, Bosch EP, Dyck PJ. Probable adult polyglucosan body disease. Mayo Clin Proc. 2000 Dec;75(12):1327–1331. [PubMed]
  • Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology. 2001 Jun 12;56(11):1552–1558. [PubMed]

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