Therapeutic landscape for Batten disease: current treatments and future prospects

TB Johnson, JT Cain, KA White… - Nature Reviews …, 2019 - nature.com
Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of
devastating lysosomal storage disorders that collectively represent the most common …

Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA

S Worgall, D Sondhi, NR Hackett, B Kosofsky… - Human gene …, 2008 - liebertpub.com
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive,
neurodegenerative lysosomal storage disease affecting the CNS and is fatal by age 8 to 12 …

[HTML][HTML] Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

M Fietz, M AlSayed, D Burke, J Cohen-Pfeffer… - Molecular genetics and …, 2016 - Elsevier
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage
disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal …

Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations

MM Souweidane, JF Fraser, LM Arkin… - Journal of …, 2010 - thejns.org
Object The authors conducted a phase I study of late infantile neuronal ceroid lipofuscinosis
using an adenoassociated virus serotype 2 (AAV2) vector containing the deficient CLN2 …

Volumetric description of brain atrophy in neuronal ceroid lipofuscinosis 2: supratentorial gray matter shows uniform disease progression

U Löbel, J Sedlacik, M Nickel… - American Journal …, 2016 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal,
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …

Differential diagnosis of normal pressure hydrocephalus by MRI mean diffusivity histogram analysis

M Ivkovic, B Liu, F Ahmed, D Moore… - American Journal …, 2013 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Accurate diagnosis of normal pressure hydrocephalus is
challenging because the clinical symptoms and radiographic appearance of NPH often …

Arterial spin labeling and altered cerebral blood flow patterns in the minimally conscious state

AA Liu, HU Voss, JP Dyke, LA Heier, ND Schiff - Neurology, 2011 - AAN Enterprises
Objective: To use arterial spin labeling (ASL) to compare cerebral blood flow (CBF) patterns
in minimally conscious state (MCS) patients with those in normal controls in an …

Gray matter growth is accompanied by increasing blood flow and decreasing apparent diffusion coefficient during childhood

ND Forkert, MD Li, RM Lober… - American Journal of …, 2016 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Normal values of gray matter volume, cerebral blood flow,
and water diffusion have not been established for healthy children. We sought to determine …

Prognostic Value of Quantitative Diffusion‐Weighted MRI in Patients with Traumatic Brain Injury

A Shakir, D Aksoy, M Mlynash, OA Harris… - Journal of …, 2016 - Wiley Online Library
ABSTRACT BACKGROUND AND PURPOSE Data about the predictive value of quantitative
diffusion‐weighted MRI in traumatic brain injury (TBI) patients is lacking. This study aimed to …

Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging

JP Dyke, D Sondhi, HU Voss… - American Journal …, 2013 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: LINCL is a uniformly fatal lysosomal storage disease
resulting from mutations in the CLN2 gene that encodes for tripeptidyl peptidase 1, a …