Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016
Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 973, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis
NEJM 310:595, MacLeod,P.M.,et al, 1984
Familial Occurrences of Adult-Type Neuronal Ceroid Lipofuscinosis
Arch Neurol 41:1091-1094, Tobo,M.,et al, 1984
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
Neurol 32:1277-1281, Baumann,R.J.,et al, 1982
An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981
Alzheimer Neurofibrillary Tangles in Diseases Other Than Senile & Presenile Dementia
Ann Neurol 5:288-294, Wisniewski,K.,et al, 1979
Juvenile Amaurotic Idiocy (Neuronal Ceroid Lipofuscinosis) & Lymphocyte Fingerprint Profiles
Ann Neurol 4:531-536, Baumann,R.J.,et al, 1978
Clinical Pathological Conference
Neuronal Veroid-lipfuscinosis, Juvenile Variant, (Batten's disease) , NEJM 299:189., , 1978
Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
Neurol 28:1008-1012, Miley,C.E.III.,et al, 1978
Diagnostic Significance of Myeloperoxidase Assay in Neuronal Ceroidlipofuscinoses (Batten-Vogt Syndrome)
Neurol 28:924-927, Pilz,H.,et al, 1978
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Clinical Insights Into CASPR1 and CASPR1/Contactin1 Com-lex Autoimmune Nodopathies
Neurol 106:e214403, Paramasivan,N.K.,et al, 2026
Frequency of AQP4 and MOG Antibodies in Patients with Optic Neuritis Fulfilling Minimal New Multiple Sclerosis MRI Criteria
Neurol 106:e214753, Deschamps,R.,et al, 2026
A 35-Year-Old Man with Recurrent Asymmetric Lumbosacral and Cervical Plexopathy
Neurol 106:e214910, Tayade,K.S., et al, 2026
Diagnostic Value of the Kappa Free light Chain Index to Distinguish MOGAD, NMOSD, and MS
Neurol 106:e214946, Tournier,A.,et al, 2026
Autoimmune Encephalitis as Treatment-Responsive Cause of Rapidly Progressive Dementia
Neurol 106:e214933, van Steenhoven,R.W.,et al, 2026
Creutzfeldt-Jakob-Like Presentation in Anti-AMPAR Encephalitis
Ann Neurol 99:1466-1467, Durbano,K.et al, 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
High-Grade Gliomas with Autoimmune Encephalitis-Like Presentation: Case Report and Systematic Review of the Literature
Neurological Sci 46:3559-3572, Creda,G.S.et al, 2025
Anti-NMDAR Encephalitis Triggered by EBV and HSV-1
Medicine 104:28, Zhan,X.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
Myelin Oligodendrocyte Glycoprotein Antibody - Associated Cerebral Cortical Encephalitis: A Case Report Highlighting Diagnostic Challenges and Therapeutic Implications
Front Immunol 16:1619807, Liu,M. & Li, D., 2025
Risk of False Acetylcholine Receptor Autoantibody Positivity by Radioimmunoprecipitation Assay in Clinical Practice
Neurol 104:e213498, Zara,P.,et al, 2025
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Efficacy and Safety of Ofatumumab Treatment for Anti-NMDA Receptor Autoimmune Encephalitis (OFF-AE): A Prospective, Multicenter Cohort Study
Ann Neurol 98:80-92, Guo,K.,et al, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients with Neimann-Pick Disease Type C
Neurol 105:e213589, Patterson,M.C., et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barre Syndrome
Neurol 105:e213848, Cabral,A.,et al, 2025
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
A 72-Year-Old Man with Progressive Pan-Dysautonomia
Neurol 105:e213994, Zelikovich,A.S.,et al, 2025
Outcomes After Acute Plasma Exchange for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
Neurol 105:e213903, Thakolwilboon,S.,et al, 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
A Woman with Subacute Progression of Distal Upper Extremity Weakness
Neurol 105:e214212, Zhao,A.J.,et al, 2025
A 59-Year-Old Female Patient with Urinary Dysfunction and Lightheadedness
Neurol 105:e214233, Bu,S.,et al, 2025
A 66-Year-Old Man with Chronic Orthostatic Hypotension
Neurol 105:e214294, Lenka,A. & Vernino,S, 2025
Sjogren Syndrome Presenting with Craniospinal Hypertrophic Pachymeningitis
Neurol 105:e214382, Nayak,A.,et al, 2025
Tapping-Triggered Seizure Secondary to Focal Cortical Dysplasia in the Primary Somatosensory Cortex
Neurol 106:e214512, Roman,I S-M, et al, 2025