title: Progressive myoclonic ataxia with intrathecal immune activation in six patients.
abstract: In six patients with slowly progressive sporadic cerebellar ataxia and cortical multifocal action myoclonus, cerebrospinal fluid (CSF) IgG index was persistently very high (1.2-6.7) and numerous oligoclonal bands were detected. Progressive cognitive impairment and MRI cerebellar and cerebral atrophy were observed. No serum antibodies were found. Various degenerative, metabolic, inflammatory and systemic diseases were excluded. The cerebellum may be the main target of a degenerative or immune process and releases antigens that, enhancing a compartmentalised (auto)immune response, as suggested by the persistent intrathecal activation, could lead to further cerebellar damage. As the frequency of CSF oligoclonal banding in myoclonic ataxia is unknown, our patients' disease might represent a hitherto unreported entity or a subset of progressive myoclonic ataxia.
authors: Department of Neurology, Fondazione IRCCS Institute C. Besta, Via Celoria 11, I-20133, Milan, Italy. dtesta@istituto-besta.it
authors: D
authors: D
authors: Testa
authors: E
authors: E
authors: Ambrosoni
authors: S
authors: S
authors: Franceschetti
authors: A
authors: A
authors: Salmaggi
authors: P
authors: P
authors: Soliveri
authors: F
authors: F
authors: Girotti
mesh_terms: D000328:Adult; D001259:Ataxia / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000276:immunology* / Q000503:physiopathology; D002490:Central Nervous System / Q000276:immunology*; D002531:Cerebellum / Q000473:pathology; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000276:immunology* / Q000503:physiopathology; D043025:Oligoclonal Bands / Q000134:cerebrospinal fluid
chemical_list: D043025:Oligoclonal Bands
references: Muscle Nerve. 2000 Mar;23(3):321-35
references: 10679708
references: Curr Opin Neurol. 2003 Jun;16(3):267-73
references: 12858061
references: N Engl J Med. 2003 Oct 16;349(16):1543-54
references: 14561798
references: Scott Med J. 1957 May;2(5):200-15
references: 13432835
references: Science. 2003 Oct 31;302(5646):834-8
references: 14593170
references: Neurology. 2000 Mar 28;54(6):1350-6
references: 10746609
references: Neurology. 2004 Dec 28;63(12):2309-15
references: 15623692
references: Mov Disord. 1995 Jul;10(4):418-23
references: 7565820
references: Mov Disord. 1995 Mar;10(2):207-10
references: 7753063
references: Arch Neurol. 1981 Apr;38(4):206-8
references: 6783017
references: Adv Neurol. 2005;96:275-83
references: 16383226
references: Neurol Sci. 2002 Oct;23(4):145-51
references: 12536283
references: Brain. 2002 May;125(Pt 5):961-8
references: 11960886
references: Ann Neurol. 2005 Dec;58(6):840-6
references: 16283615
references: Clin Neurophysiol. 2003 Jun;114(6):1041-52
references: 12804673
references: Neurology. 2002 Apr 23;58(8):1221-6
references: 11971090
references: Epilepsia. 2001 Mar;42(3):430-2
references: 11442164
references: J Neurol Neurosurg Psychiatry. 1994 Dec;57(12):1510-7
references: 7798982
references: J Neurol Sci. 1994 Jul;124 Suppl:14-9
references: 7807136
references: Brain. 1994 Aug;117 ( Pt 4):759-65
references: 7922463
references: Adv Neurol. 2002;89:31-4
references: 11968458
references: Ann Neurol. 1983 Mar;13(3):227-31
references: 6847134
references: J Neurol Neurosurg Psychiatry. 2006 Mar;77(3):345-50
references: 16174651
references: J Neurol. 2004 Feb;251(2):184-8
references: 14991353