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CADASIL RESEARCH:
CASE REPORTS

Article Summaries
Links to Articles and Abstracts: Novel Mutations
Links to Articles and Abstracts: Reports of Families
Links to Articles and Abstracts: Reports of Individuals

Article Summaries


Links to Articles and Abstracts: Novel Mutations
Kim Y, Kim JS, Kim G, No YJ, Yoo HW. Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. Mutat Res. 2006;593:116-20.
Abstract

Mazzei R, Conforti FL, Lanza PL, Sprovieri T, Lupo MR, Gallo O, Patitucci A, Magariello A, Caracciolo M, Gabriele AL, Fera F, Valentino P, Bono F, Cenacchi G, Santoro G, Muglia M, Quattrone A. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology. 2004 Aug 10;63(3):561-4.
Abstract

Dotti MT, De Stefano N, Bianchi S, Malandrini A, Battisti C, Cardaioli E, Federico A. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. Arch Neurol. 2004 Jun;61(6):942-5.
Abstract

Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL, Na DL. A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. J Korean Med Sci. 2003 Feb;18(1):141-4.
Abstract

Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. 2002 Jul 23;59(2):277-9.
Abstract

Finnila S, Tuisku S, Herva R, Majamaa K. A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL. J Mol Med. 2001 Nov;79(11):641-7.
Abstract

Dichgans M, Herzog J, Gasser T. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology. 2001 Nov 13;57(9):1714-7.
Abstract

Oliveri RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, Patitucci A, Gabriele AL, Tagarelli G, Magariello A, Zappia M, Gambardella A, Federico A, Quattrone A. A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Arch Neurol. 2001 Sep;58(9):1418-22.
Abstract

Joutel A, Dodick DD, Parisi JE, Cecillon M, Tournier-Lasserve E, Bousser MG. De novo mutation in the Notch3 gene causing CADASIL. Ann Neurol. 2000 Mar;47(3):388-91.
Abstract

Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers AL, Frants RR, Breuning MH, Haan J. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. Neurology. 1999 Jun 10;52(9):1913-5.
Abstract

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Links to Articles and Abstracts: Reports of Families
Miranda M, Dichgans M, Slachevsky A, Urbina F, Mena I, Venegas P, Galvez M. CADASIL presenting with a movement disorder: A clinical study of a Chilean kindred. Mov Disord. 2006 Mar 14. [Epub ahead of print].
Abstract

Mandellos D, Limbitaki G, Papadimitriou A, Anastasopoulos D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Greek family. Neurol Sci. 2005 Oct;26(4):278-81.
Abstract

Nakamura T, Watanabe H, Hirayama M, Inukai A, Kabasawa H, Matsubara M, Mitake S, Nakamura M, Ando Y, Uchino M, Sobue G. CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. J Neurol Sci. 2005 Nov 15;238(1-2):87-91.
Abstract

Tang SC, Lee MJ, Jeng JS, Yip PK. Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neurol Sci. 2005 Feb 15;228(2):125-8.
Abstract

Wilder-Smith E, Shen Y, Ng YK, Yu GX, Chew NK, Tan CT, Wong MC. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features. J Clin Neurosci. 2004 Apr;11(3):304-7.
Abstract

Rafalowska J, Fidzianska A, Dziewulska D, Podlecka A, Szpak GM, Kwiecinski H. CADASIL: new cases and new questions. Acta Neuropathol (Berl). 2003 Dec;106(6):569-74.
Abstract

Abe K, Murakami T, Matsubara E, Manabe Y, Nagano I, Shoji M. Clinical Features of CADASIL. Ann N Y Acad Sci. 2002 Nov;977:266-72.
Abstract

Malandrini A, Albani F, Palmeri S, Fattapposta F, Gambelli S, Berti G, Bracco A, Tammaro A, Calzavara S, Villanova M, Ferrari M, Rossi A, Carrera P. Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL. Neurology. 2002 Aug 27;59(4):617-20.
Abstract

Utku U, Celik Y, Uyguner O, Yuksel-Apak M, Wollnik B. CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. Eur J Neurol. 2002 Jan;9(1):23-8.
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Angeli S, Carrera P, Del Sette M, Assini A, Grandis M, Biancolini D, Ferrari M, Gandolfo C. Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy. Eur Neurol. 2001;46(4):198-201.
Abstract

Harris JG, Filley CM. CADASIL: neuropsychological findings in three generations of an affected family. J Int Neuropsychol Soc. 2001 Sep;7(6):768-74.
Abstract


Murakami T, Iwatsuki K, Hayashi T, Sato K, Matsubara E, Nagano I, Manabe Y, Shoji M, Abe K. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. Intern Med. 2001 Nov;40(11):1144-8.
Abstract

de la Pena P, Bornstein B, del Hoyo P, Fernandez-Moreno MA, Martin MA, Campos Y, Gomez-Escalonilla C, Molina JA, Cabello A, Arenas J, Garesse R. Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. Neurology. 2001 Oct 9;57(7):1235-8.
Abstract

Grigg R, Lea R, Sullivan AA, Curtain R, MacMillian J, Griffiths L. Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. Hum Mutat. 2000 Nov;16(5):449-50.
Abstract

Uyama E, Tokunaga M, Suenaga A, Kotorii S, Kamimura K, Takahashi K, Tabira T, Uchino M. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. Intern Med. 2000 Sep;39(9):732-7.
Abstract

Ceroni M, Poloni TE, Tonietti S, Fabozzi D, Uggetti C, Frediani F, Simonetti F, Malaspina A, Alimonti D, Celano M, Ferrari M, Carrera P. Migraine with aura and white matter abnormalities: Notch3 mutation. Neurology. 2000 May 9;54(9):1869-71.
Abstract

Kamimura K, Takahashi K, Uyama E, Tokunaga M, Kotorii S, Uchino M, Tabira T. Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Dis Assoc Disord. 1999 Oct-Dec;13(4):222-5.
Abstract

Caronti B, Calandriello L, Francia A, Scorretti L, Manfredi M, Sansolini T, Pennisi EM, Calderaro C, Palladini G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Neuropathological and in vitro studies of abnormal elastogenesis. Acta Neurol Scand. 1998 Oct;98(4):259-67.
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Furby A, Vahedi K, Force M, Larrouy S, Ruchoux MM, Joutel A, Tournier-Lasserve E. Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening. J Neurol. 1998 Nov;245(11):734-40.
Abstract


Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Shungu DC, Naini AB, Mohr JP. CADASIL in a North American family: clinical, pathologic, and radiologic findings. Neurology. 1998 Sep;51(3):844-9.
Abstract

Mellies JK, Baumer T, Muller JA, Tournier-Lasserve E, Chabriat H, Knobloch O, Hackeloer HJ, Goebel HH, Wetzig L, Haller P. SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only. Neurology. 1998 Jun;50(6):1715-21.
Abstract


Trojano L, Ragno M, Manca A, Caruso G. A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up. J Neurol. 1998 Apr;245(4):217-22.
Abstract

Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptacek LJ, Davis LE. Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. Neuropsychiatry Neuropsychol Behav Neurol. 1998 Jan;11(1):31-9.
Abstract


Malandrini A, Carrera P, Ciacci G, Gonnelli S, Villanova M, Palmeri S, Vismara L, Brancolini V, Signorini E, Ferrari M, Guazzi GC. Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy. Neurology. 1997 May;48(5):1200-3.
Abstract

Hedera P, Friedland RP. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia. J Neurol Sci. 1997 Feb 27;146(1):27-33.
Abstract

Bergmann M, Ebke M, Yuan Y, Bruck W, Mugler M, Schwendemann G. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family. Acta Neuropathol (Berl). 1996 Oct;92(4):341-50.

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Malandrini A, Carrera P, Palmeri S, Cavallaro T, Fabrizi GM, Villanova M, Fattapposta M, Vismara L, Brancolini V, Tanganelli P, Cali A, Morocutti C, Zeviani M, Ferrari M, Guazzi GC. Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol (Berl). 1996 Aug;92(2):115-22.
Abstract

Verin M, Rolland Y, Landgraf F, Chabriat H, Bompais B, Michel A, Vahedi K, Martinet JP, Tournier-Lasserve E, Lemaitre MH, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry. 1995 Dec;59(6):579-85.
Abstract

Wielaard R, Bornebroek M, Ophoff RA, Winter-Warnars HA, Scheltens P, Frants RR, Ferrari MD, Haan J. A four-generation Dutch family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), linked to chromosome 19p13. Clin Neurol Neurosurg. 1995 Nov;97(4):307-13.
Abstract

Hutchinson M, O'Riordan J, Javed M, Quin E, Macerlaine D, Wilcox T, Parfrey N, Nagy TG, Tournier-Lasserve E. Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol. 1995 Nov;38(5):817-24.
Abstract

Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, Trojano L, Chabriat H, Salvi F. An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol. 1995 Aug;38(2):231-6.
Abstract

Jung HH, Bassetti C, Tournier-Lasserve E, Vahedi K, Arnaboldi M, Arifi VB, Burgunder JM. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. J Neurol Neurosurg Psychiatry. 1995 Aug;59(2):138-43.
Abstract


Chabriat H, Tournier-Lasserve E, Vahedi K, Leys D, Joutel A, Nibbio A, Escaillas JP, Iba-Zizen MT, Bracard S, Tehindrazanarivelo A, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology. 1995 Jun;45(6):1086-91.
Abstract


Sabbadini G, Francia A, Calandriello L, Di Biasi C, Trasimeni G, Gualdi GF, Palladini G, Manfredi M, Frontali M. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain. 1995 Feb;118 ( Pt 1):207-15.
Abstract


Schroder JM, Sellhaus B, Jorg J. Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol (Berl). 1995;89(2):116-21.
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Links to Articles and Abstracts: Reports of Individuals
Pescini F, Sarti C, Pantoni L, Mangiafico S, Bianchi S, Dotti MT, Federico A, Inzitari D. Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. Acta Neurol Scand. 2006;113:62-3.
Abstract

Ragoschke-Schumm A, Axer H, Fitzek C, Dichgans M, Peters N, Mueller-Hoecker J, Witte OW, Isenmann S. Intracerebral haemorrhage in CADASIL. J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1606-7.
Abstract

Pantoni L, Pescini F, Inzitari D, Dotti MT. Postpartum psychiatric disturbances as an unrecognized onset of CADASIL. Acta Psychiatr Scand. 2005 Sep;112(3):241.
Abstract

Phillips JS, King JA, Chandran S, Prinsley PR, Dick D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss. J Laryngol Otol. 2005 Feb;119(2):148-51.
Abstract

Ishiko A, Shimizu A, Nagata E, Ohta K, Tanaka M. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephaloapthy (CADASIL): a hereditary cerebrovascular disease, which can be diagnosed by skin biopsy electron microscopy. Am J Dermatopathol. 2005 Apr;27(2):131-4.
Abstract

Ratzinger G, Ransmayr G, Romani N, Zelger B. CADASIL-an unusual manifestation with prominent cutaneous involvement. Br J Dermatol. 2005 Feb;152(2):346-9.
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Maclean AV, Woods R, Alderson LM, Salloway SP, Correia S, Cortez S, Stopa EG. Spontaneous lobar haemorrhage in CADASIL. J Neurol Neurosurg Psychiatry. 2005 Mar;76(3):456-7.
Abstract

Leyhe T, Wiendl H, Buchkremer G, Wormstall H. CADASIL: underdiagnosed in psychiatric patients? Acta Psychiatr Scand. 2005 May;111(5):392-6.
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Pantoni L, Sarti C, Pescini F, Bianchi S, Bartolini L, Nencini P, Basile AM, Lamassa M, Kalaria RN, Dotti MT, Federico A, Inzitari D. Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. Eur J Neurol. 2004 Nov;11(11):782-7.
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Golomb MR, Sokol DK, Walsh LE, Christensen CK, Garg BP. Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: is this early CADASIL? Neurology. 2004 Jun 22;62(12):2331-2.
Abstract

Guidetti D, Casali B, Mazzei RL, Cenacchi G, De Berti G, Zuccoli G, Nicoli D, Conforti FL, Sprovieri T, Pasquinelli G, Brini M. An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene. Neurol Sci. 2004 Feb;24(6):401-6.
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Felician O, Barbeau E, Gavaret M, Pellissier JF, Tournier-Lasserve E, Poncet M, Ceccaldi M. A case of late-onset CADASIL with interhemispheric disconnection features. J Neurol. 2003 Oct;250(10):1242-4.
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Van Gerpen JA, Ahlskog JE, Petty GW. Progressive supranuclear palsy phenotype secondary to CADASIL. Parkinsonism Relat Disord. 2003 Aug;9(6):367-9.
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Raghu C, Loubeyre C, Obadia E, Morice MC. Primary angioplasty in CADASIL. Catheter Cardiovasc Interv. 2003 Jun;59(2):235-7.
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Thijs V, Robberecht W, De Vos R, Sciot R. Coexistence of CADASIL and Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2003 Jun;74(6):790-2.
Abstract   Free Full Text Article

Okeda R, Arima K, Kawai M. Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case. Stroke. 2002 Nov;33(11):2565-9.
Abstract   Free Full Text Article

Le Ber I, Carluer L, Derache N, Lalevee C, Ledoze F, Defer GL. Unusual presentation of CADASIL with reversible coma and confusion. Neurology. 2002 Oct 8;59(7):1115-6.
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O'Riordan S, Nor AM, Hutchinson M. CADASIL imitating multiple sclerosis: the importance of MRI markers. Mult Scler. 2002 Oct;8(5):430-2.
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Smith BW, Henneberry J, Connolly T. Skin biopsy findings in CADASIL. Neurology. 2002 Sep 24;59(6):961.
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Engelter ST, Rueegg S, Kirsch EC, Fluri F, Probst A, Steck AJ, Lyrer PA. CADASIL mimicking primary angiitis of the central nervous system. Arch Neurol. 2002 Sep;59(9):1480-3.
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Thomas N, Mathews T, Loganathan A. Cadasil: presenting as a mood disorder. Scott Med J. 2002 Apr;47(2):36-7.
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Feuerhake F, Volk B, Ostertag CB, Jungling FD, Kassubek J, Orszagh M, Dichgans M. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. Acta Neuropathol (Berl). 2002 Feb;103(2):188-92.
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Iwatsuki K, Murakami T, Manabe Y, Narai H, Warita H, Hayashi T, Abe K. Two cases of Japanese CADASIL with corpus callosum lesion. Tohoku J Exp Med. 2001 Oct;195(2):135-40.
Abstract   Free Full Text Article

Lagas PA, Juvonen V. Schizophrenia in a patient with cerebral autosomally dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL disease). Nord J Psychiatry. 2001;55(1):41-2.
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Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology. 2001 Dec 11;57(11):2144-5.
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de Freitas GR, Miklossy J, Christen-Zach S, Reichhart M, Bogousslavsky J. A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene. J Neurol Sci. 2001 Dec 15;193(1):43-7.
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Tuominen S, Juvonen V, Amberla K, Jolma T, Rinne JO, Tuisku S, Kurki T, Marttila R, Poyhonen M, Savontaus ML, Viitanen M, Kalimo H. Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke. 2001 Aug;32(8):1767-74.
Abstract   Free Full Text Article

Filley CM, Thompson LL, Sze CI, Simon JA, Paskavitz JF, Kleinschmidt-DeMasters BK. White matter dementia in CADASIL. J Neurol Sci. 1999 Mar 1;163(2):163-7.
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Weller M, Dichgans J, Klockgether T. Acetazolamide-responsive migraine in CADASIL. Neurology. 1998 May;50(5):1505.
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Rubio A, Rifkin D, Powers JM, Patel U, Stewart J, Faust P, Goldman JE, Mohr JP, Numaguchi Y, Jensen K. Phenotypic variability of CADASIL and novel morphologic findings. Acta Neuropathol (Berl). 1997 Sep;94(3):247-54.
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Kumar SK, Mahr G. CADASIL presenting as bipolar disorder. Psychosomatics. 1997 Jul-Aug;38(4):397-8.
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Lammie GA, Rakshi J, Rossor MN, Harding AE, Scaravilli F. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)--confirmation by cerebral biopsy in 2 cases. Clin Neuropathol. 1995 Jul-Aug;14(4):201-6.
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Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl). 1995;89(6):500-12.
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