Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,et al, 2025
A 30-Year-Old Woman Presenting with Rapidly Progressive Dementia and Extreme Hypoglycorrhachia
Neurol 102:e209188, Bai,X.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Sporadic Creutzfeldt-Jakob Disease in a Very Young Person
Neurol 97:813-816,801, Appleby, B.S.,et al, 2021
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
Significant Period Between Presentation and Diagnosis in Basilar Artery Occlusion
Stroke 46:e79-e81, Organek, N.,et al, 2015
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
A Case of Early-Onset Rapidly Progressive Dementia
JAMA Neurol 71:1445-1449, Cachia, D.,et al, 2014
Frontotemporal Dementia
BMJ 347:f4827, Warren, J.D.,et al, 2013
Role of Brain Imaging in Early Parkinsonism
BMJ 324:d638, Breen,D.P.,et al, 2011
High-Resolution Diffusion Tensor Imaging in the Substantia Nigra of De Novo Parkinson Disease
Neurol 72:1378-1384,1374, Vaillancourt,D.E.,et al, 2009
A 34-Year-Old Man With Progressive Behavioral and Language Disturbance
Neurol 68:68-74, Miller,B.L.,et al, 2007
Acute Reversible Hemi-Parkinsonism for a Diabetic Uremic Patient: Findings from MRI, MRS, FDG-PET, 99m Tc-TRODAT-1 SPECT, and TMS Studies
Ann Nucl Med Sci 20:51-57, Cheng, S.,et al, 2007
CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia
AJNR 27:1037-1039, Mascalchi,M.,et al, 2006
Dementia and White-Matter Demyelination in Young Patient With Neurosyphilis
Lancet:368:2258, Brinar,V.V. &Habek,M., 2006
The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Stroke in a Healthy 46-Year-Old Man
JAMA 285:2757-2762, Wityk,R.J., 2001
Adult-Onset Leukoencephalopathy with Vanishing White Matter Presenting with Dementia
Ann Neurol 50:665-668, Prass,K.,et al, 2001
Clinical Correlates of Vascular Parkinsonism
Arch Neurol 56:98-102, Winikates,J.&Jancovic,J., 1999
A Case of Sporadic Pick Disease With Onset at 27 Years
Arch Neurol 56:1289-1291, Jacob,J.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Sneddon's Syndrome is a Thrombotic Vasculopathy:Neuropathologic and Neuroradiologic Evidence
Neurol 45:557-560, Geschwind,D.H.,et al, 1995
Multiple System Atrophy presenting as Parkinsonism:Clinical Features and Diagnostic Criteria
JNNP 59:144-151, Albanese,A.,et al, 1995
MRI In Patients with Suspected Vascular Parkinsonism
Neurol 45:2183-2188, Jijlmans,J.C.M.,et al, 1995
Presenile-Onset Cerebral Adrenoleukodystrophy Presenting as Balint's Syndrome and Dementia
Neurol 43:1249-1251, Uyama,E.,et al, 1993
Clinicopath Conf
Spongiform Encephalopathy (Creutzfeldt-Jakob Disease) , with Amyloid (KURU) Plaques, Case 17-1993, N, JM 328:66,1993., 1993
Clinical Features of Vascular Thrombosis Following Varicella
Am J Dis Child 146:100-102, Bodensteiner,J.B.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Membranous Lipodystrophy:MR Imaging Appearance of the Brain
Radiology 180:793-797, Araki,T.,et al, 1991
Hallervorden-Spatz Syndrome:Clinical and Magnetic Resonance Imaging Correlations
Ann Neurol 24:692-694, Sethi,K.D.,et al, 1988
Reversible Leukoencephalopathy and Parkinsonism Due to CNS Involvement in Cryoglobulinemia
Neurol 106:e214622, German,A.,et al, 2026
Using Susceptibility-Based Imaging in Highly Active Late-Onset Multiple Sclerosis
Neurol 106:e214794, Sosa,S.M.,et al, 2026
Using Susceptibility-Based Imaging in highly ctive Late-Onset Multiple Sclerosis
Neurol 106:e214794, Sosa,S.M.,et al, 2026
Spontaneous Spinal Cord Infarction in a Young Patient: An Overview of Clinical Features and Management
Stroke 56:58-61, Chornay,C.,et al, 2025
A 32 Year-Old Woman with Recurrent Intracerebral Hemorrhages
Neurol 104:e213422, Hindsholm,M.F.,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
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
Frequency and Diagnostic Implications of Paramagnetic Rim Lesions in People Presenting for Diagnosis to a Multiple Sclerosis Clinic
Neurol 105:e213912, Remner,B.,et al, 2025
A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
Neurol 105:e214299, Gutierrez-Abizuri,C.,et al, 2025