References for clinical diagnoses
Last update: 14/07/2008

Disease

Key references Clical Diagnostic Indicators

Neurodegenerative diseases

Alzheimer's disease and related disorders
Alzheimer's disease

McKhann G et al (1984) Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34: 939-944

Gearing M et al (1995) the Consortium to establish a registry for Alzheimer disease (CERAD) Part X: Neuropathology confirmation of the clinical diagnosis of Alzheimer’s disease. Neurology 45:461-466
Geldmacher DS et al (1997) Differential diagnosis of Alzheimer disease. Neurology 48 (S6): S2-S9

Small GW et al (1997) Diagnosis and treatment of Alzheimer disease and related disorders. Consensus statement of the American Association for Geriatric Psychiatry, the Alzheimer's Association and the American Geriatric Society JAMA 278: 1363-1371

Waldemar G et al (2000) Diagnosis and management of Alzheimer’s disease and other disorders associated with dementia: the role of neurologists in Europe. Europ J Neurol 7: 133-144

American Academy of Neurology (2001) Practice parameters for detection, diagnosis and management of dementia (summary statements). Neurology 56: 1133-1142, 1143-1153, 1154-1166

Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging: single-photon emission tomography (SPET) and fluorodeoxyglucose-positron emission tomography (FDG-PET)
Biomarkers (tau, phospho-tau, total Aß, Aß42 dosage in the cerebrospinal fluid)

Molecular genetic test (for familial forms) of the following genes: Amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2)

Mild cognitive impairment Petersen RC et al (2001) Current concepts in mild cognitive impairment. Arch Neurol 58:1985-1992

Petersen RC (2004) Mild cognitive impairment as a diagnostic entity. J Int Med 256:183-194
Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET)
Hereditary cerebral haemorrhage with amyloidosis   Luyendijk W et al (1988) Hereditary cerebral hemorrhage caused by cortical amyloid angiopathy. J Neurol Sci 85:267-280

Bornebroek M et al (1996) Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): II- A review of clinical, radiologic and genetic aspects. Brain Pathol 6:111-114
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Molecular genetic test of the Amyloid precursor protein (APP) gene 
Tauopathies
Progressive supranuclear palsy (PSP) Steele JC et al (1964) Progressive supranuclear palsy: a heterogeneous degeneration involving the brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. Arch Neurol 10: 333-359

Litvan I et al (1996) Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 47: 1-9

Litvan I et al (1996) Accuracy of clinical criteria for the diagnosis of PSP (Steele-Richardson-Olszewski syndrome). Neurology 46: 922-930
Osaki Y et al (2004) Accuracy of clinical diagnosis of progressive supranuclear palsy. Mov Disord 19:181-189

Williams DR et al (2005) Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson’s syndrome and PSP-parkinsonism. Brain 128: 1247-1258

Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET)

Corticobasal degeneration (CBD)  Rebeiz JJ et al (1967) Corticodentatonigral degeneration with neuronal achromasia: a progressive disorder of late adult life. Trans Am Neurol Assoc 92: 23-26

Gibb WR et al. (1989) Corticobasal degeneration. Brain 112:1171-1192
Riley DE et al (1990) Cortical-basal ganglionic degeneration. Neurology 40:1203-1212

Boeve BF et al (1999) Pathologic heterogeneity in clinically diagnosed coriticobasal degeneration. Neurology 53: 795-800
Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET) 
Frontotemporal dementia (FTD), including Pick's disease  Constantinidis J et al (1974) Pick’s disease: histologic and clinical correlation. Eur J Neurol 11: 208-217

Neary D et al (1998) Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 51: 1546-1554

McKhann G et al (2001) Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58: 1803-1809

Tolnay M et al (2002) Frontotemporal lobar degeneration – tau as a pied piper? Neurogenetics 4: 63-75

Neary D et al (2005) Frontotemporal dementia. Lancet Neurol 4:771-780
Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET) 
Other sporadic tauopathies  Ikeda K et al (2000) Clinical aspects of argyrophilic grain disease. Clin Neuropathol 19: 278-284

Togo T et al (2005) Clinical features of argyrophilic grain disease: a retrospective survey of cases with neuropsychiatric symptoms. Am J Geriatr Psychiatry 13:1083-1091
Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET) 
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17)    Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (SPET, FDG-PET)
Molecular genetic test of the tau protein (MAPT) gene and of the progranulin (GRN) genes
a-synucleinopathies
Parkinson's disease (PD) Gelb et al (1999) Diagnostic Criteria for Parkinson Disease Arch Neurol 56: 33-39

Hughes et al (2001) What features improve the accuracy of clinical diagnosis in PD Neurology 57: (10): S34-S38

Litvan I, Bhatia KP, Burn DJ. Movement Disorders Society Scientific Issues. Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord. 2003 May;18(5):467-86

Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (FDOPA-PET)

Multiple System Atrophy (MSA)  Gilman et al (1998) Consensus statement on the diagnosis of multiple system atrophy. American Autonomic Society and American Academy of Neurology Clin Auton Res 8(6): 359-62

Colosimo et al (2001) European Study Group on Atypical Parkinsonism (ESGAP) Consortium. Clinical diagnosis of multiple system atrophy: level of agreement between Quinn's criteria and the consensus conference guidelines Acta Neurol Scand 103(4):261-4

Wenning GK, et al (2004). Multiple system atrophy. Lancet Neurol. 2004 Feb;3(2):93-103 (includes review of clinical criteria)
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging (FDOPA-PET) 
Dementia with Lewy Bodies  (DLB)  McKeith et al (1996) Consensus guidelines for the clinical and pathological diagnosis of DLB Neurology 47: 1113-1124

Mc Keith et al (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology 65:1863-1872
Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging: single-photon emission tomography (SPET) and fluorodeoxyglucose-positron emission tomography (FDG-PET) 
Prion diseases
Creutzfeldt Jakob Disease (CJD) Brown P et al (1994) Human spongiform encephalopathy: the National Institute of Health series of 300 cases of esperimentally transmitted disease. Ann Neurol 35:513-529

Kretzschmar H et al (1996) Diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Arch Neurol 53:913-920

Parchi P et al (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotipic analysis of 300 subjects. Ann Neurol 46:224-233

Electroencephalographic studies (EEG)
Neuroradiologic examination (Magnetic Resonance Imaging)
Biomarkers (search of the 14.3.3 protein and determination of tau protein levels in the cerebrospinal fluid)
Molecular genetic test (for familial forms) of the prion protein (PRNP) gene

Variant Creutzfeldt Jakob Disease  Will RG et al (1996) A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 347:921-925

The revision of the surveillance case definition for variant Creutzfeldt-Jakob Disease (vCJD). Report of a WHO consultation Edinburgh, United Kingdom 17 May 2001

Will RG et al (1999) Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol 47:575-582
Electroencephalographic studies (EEG)
Neuroradiologic examination (Magnetic Resonance Imaging)
Biomarkers (search of the 14.3.3 protein and determination of tau protein levels in the cerebrospinal fluid
Tonsillar biopsy
Gerstmann-Sträussler-Scheinker disease  Ghetti et al (1995) Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol 5:61-75 Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Molecular genetic test (for familial forms) of the prion protein (PRNP) gene 
Fatal familial insomnia  Lugaresi et al (1986) Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med 315:997-1003

Gambetti et al (1995) Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and mlecular features. Brain Pathol 5:43-51
Electroencephalographic studies (EEG)
Neuroradiologic examination (Magnetic Resonance Imaging)
Polysomnography
Biomarkers (search of the 14.3.3 protein and determination of tau protein levels in the cerebrospinal fluid
Molecular genetic test of the prion protein (PRNP) gene
Trinucleotide repeat disorders
Huntington's disease (HD) Martin JB et al (1986) Huntington’s disease, pathogenesis and management. N Engl J Med 315:1267-1276

Andrew SE et al (1993) The relationship between trinucleotide (CAG) repeat lenght and clinical features of Huntington’s disease. Nature Genet 4:398-403

Marshall FJ et al (1997) Clinical features and treatment of Huntington’s disease. In: Movement Disorders - Neurologic principles and practice (ed. RL Watts and WC Koller), pp. 491-502, Mc Graw-Hill, New York

MacDonald ME et al (2003) Huntington's disease. Neuromuscular Med 4:7-20
Walker RH et al (2003) Phenotypic features of Huntington's disease-like 2. Mov Disord 18:1527-1530

Molecular genetic test of the Huntington gene

Spinocerebellar ataxias  Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1(8334):1151-1155 Molecular genetic test of the SCA-associated genes 
Friedreich's ataxia   Barbeau A (1978) Friedreich’s ataxia 1978 – an overview. Can J Neurol Sci 5:161-165

Dürr A (1996) Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 335:1169-1175
Molecular genetic test of the Friedreich gene 
Others
Amyotrophic lateral sclerosis Brooks BR (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors (1994) J Neurol Sci 124 S:96-107

Roland LP (1998) Diagnosis of Amyotrophic Lateral Sclerosis. J Neurol Sci 160 (S1):S6-S24

Brooks BR et al (2000)  Research group on motor neurone disease: El Escorial revisited: revised criteria for the diagnosis of Amyotrophic Lateral Sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 1:293-299

Bromberg MB (2002) Diagnostic criteria and outcome measurement of amyotrophic lateral sclerosis. Adv Neurol. 88:53-62

Neuroradiologic examination (Magnetic Resonance Imaging)
Electromyographic studies

Alexander disease  Rodriguez D et al (2001) Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 69:1134-1140

van der Knapp et al (2005) Unusual variants of Alexander’s disease. Ann Neurol 57:327-338
Molecular genetic test of the gene for the glial fibrillary acidic protein 
Demyelinating diseases
Multiple Sclerosis Matthews WB (1998) The symptoms and signs of MS In: McAlpine's Multiple Sclerosis (ed. DAS Compston et al), pp. 145-190, Churchill Livingstone, London

Matthews WB (1998) The differential diagnosis of MS and related disorders In: McAlpine's Multiple Sclerosis (ed. DAS Compston et al), pp. 223-250, Churchill Livingstone, London

McDonald WI et al (2001). Recommended diagnostic critiera for multiple sclerosis: Guidelines from the international panel on the diagnosis of multiple sclerosis. Ann Neurol 50:121-127

Miller DH et al (2004) Role of magnetic resonance imaging within diagnostic criteria for multiple sclerosis. Ann Neurol 56:273-278

Neuroradiologic examination (Magnetic Resonance Imaging)
Biomarkers (oligoclonal bands in the cerebrospinal fluid)
Evoked potentials

Cerebrovascular diseases
Vascular dementia Hachinski V et al (1974) Multi-infarct dementia: a cause of mental deterioration in the elderly. Lancet 27:207-210

Chui HC et al (2000) Clinical criteria of the diagnosis of vascular dementia Arch Neurol 57:191-196

O'Brien JT et al (2003) Vascular cognitive impairment. Lancet Neurol 2: 89-98

Roman GC et al (2004) Vascular cognitive disorder: a new diagnostic category updating vascular cognitive impairment and vascular dementia. J Neurol Sci 226:81-87

Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Functional brain imaging: single-photon emission tomography (SPET) and fluorodeoxyglucose-positron emission tomography (FDG-PET)

CADASIL  Chabriat H et al (1995) Clinical spectrumof CADASIL: a study of seven families . Cerebral autosomal dominant arteiopathy with subcortical infarcts and leukoencephalopathy. Lancet 346:934-939

Dichgans M et al (1998) The phenotypic spectrum of CADASIL: Clinical findings in 102 cases. Ann Neurol 44:731-739
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Skin biopsy with ultrastructural examination
Molecular genetic test of the Notch-3 gene 
Epilepsy
Epilepsy Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes Epilepsia 30: 389-399

Electroencephalographic studies (EEG)
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)

AIDS
AIDS Report of a working group of the American Academy of Neurology AIDS taskforce (1991) Nomenclature and research case definitions for neurological manifestations of HIV-1 infection Neurology 41:778-785

Moncroft et al (1995) Staging system for clinical AIDS patients Lancet 346: 12-17
HIV/AIDS classification updates
www.cdc.gov/publications.htm

Neuropsychologic tests
Neuroradiologic examination (Computed Tomography, Magnetic Resonance Imaging)
Search of anti-HIV antibodies

Psychiatric diseases
 Depression World Health Organization (1992) The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines WHO, Geneva

American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders (DSM-IV), 4th edition. Washington DC, American Psychiatric Association
 
 Schizophrenia World Health Organization (1992) The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines WHO, Geneva

American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders (DSM-IV), 4th edition. Washington DC, American Psychiatric Association
 
 



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