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Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers

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Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum

Jing Ma et al.

PARKINSONISM & RELATED DISORDERS (2014)

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Article Multidisciplinary Sciences

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Hiroshi Doi et al.

SCIENTIFIC REPORTS (2014)

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Review Clinical Neurology

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

John K. Fink

ACTA NEUROPATHOLOGICA (2013)

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Article Clinical Neurology

Microstructural Integrity of Cerebral Fiber Tracts in Hereditary Spastic Paraparesis with SPG11 Mutation

M. -K. Pan et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2013)

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Article Radiology, Nuclear Medicine & Medical Imaging

SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism

Tatsuhiro Terada et al.

ANNALS OF NUCLEAR MEDICINE (2013)

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Article Biochemistry & Molecular Biology

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

Michael Gonzalez et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

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Article Medicine, General & Internal

Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism

Ji Seon Kim et al.

JOURNAL OF KOREAN MEDICAL SCIENCE (2013)

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Article Clinical Neurology

Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

Li Cao et al.

PARKINSONISM & RELATED DISORDERS (2013)

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Article Genetics & Heredity

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke H. M. Schuurs-Hoeijmakers et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

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Review Clinical Neurology

Spinal cord markers in ALS: Diagnostic and biomarker considerations

Peter Bede et al.

AMYOTROPHIC LATERAL SCLEROSIS (2012)

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Article Clinical Neurology

Neuroanatomical patterns of cerebral white matter involvement in different motor neuron diseases as studied by diffusion tensor imaging analysis

Hans-Peter Mueller et al.

AMYOTROPHIC LATERAL SCLEROSIS (2012)

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Article Clinical Neurology

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

Koen L. I. van Gassen et al.

BRAIN (2012)

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Article Clinical Neurology

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Stephan Klebe et al.

BRAIN (2012)

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Article Neurosciences

Unbiased comparison of sample size estimates from longitudinal structural measures in ADNI

Dominic Holland et al.

HUMAN BRAIN MAPPING (2012)

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Article Clinical Neurology

White and grey matter abnormalities in patients with SPG11 mutations

Marcondes C. Franca et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

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Article Multidisciplinary Sciences

Comprehensive Evaluation of Corticospinal Tract Metabolites in Amyotrophic Lateral Sclerosis Using Whole-Brain 1H MR Spectroscopy

Varan Govind et al.

PLOS ONE (2012)

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Article Clinical Neurology

Functional MRI of the cortical sensorimotor system in patients with hereditary spastic paraplegia

T. Tomberg et al.

SPINAL CORD (2012)

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Article Clinical Neurology

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

Maria Laura Stromillo et al.

JOURNAL OF NEUROLOGY (2011)

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Letter Clinical Neurology

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Antonio Orlacchio et al.

JOURNAL OF NEUROLOGY (2011)

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Article Clinical Neurology

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

Lubov Blumkin et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)

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Article Clinical Neurology

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

Kirsten Svenstrup et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

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Article Clinical Neurology

Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia

Thomas Duning et al.

MOVEMENT DISORDERS (2010)

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A Novel Splice Site Mutation in the SPG7 Gene Causing Widespread Fiber Damage in Homozygous and Heterozygous Subjects

Tobias Warnecke et al.

MOVEMENT DISORDERS (2010)

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Article Clinical Neurology

Diffusion tensor imaging of the corpus callosum differentiates corticobasal syndrome from Parkinson's disease

Kai Boelmans et al.

PARKINSONISM & RELATED DISORDERS (2010)

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Article Clinical Neurology

Functional changes of the cortical motor system in hereditary spastic paraparesis

B. Koritnik et al.

ACTA NEUROLOGICA SCANDINAVICA (2009)

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Article Genetics & Heredity

SPG11 Mutations Cause Kjellin Syndrome, a Hereditary Spastic Paraplegia With Thin Corpus Callosum and Central Retinal Degeneration

Hanna Orlen et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)

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Article Clinical Neurology

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

R. Hourani et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2009)

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Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

Frans Brugman et al.

ARCHIVES OF NEUROLOGY (2009)

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Article Clinical Neurology

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study

Chiara Criscuolo et al.

JOURNAL OF NEUROLOGY (2009)

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Article Clinical Neurology

SPG11 spastic paraplegia

Mathieu Anheim et al.

JOURNAL OF NEUROLOGY (2009)

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Article Clinical Neurology

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

C. Scuderi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

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Article Clinical Neurology

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

A. K. Erichsen et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2009)

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Article Clinical Neurology

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

C. Goizet et al.

NEUROLOGY (2009)

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Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

Shi Guo Liu et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)

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Article Clinical Neurology

Silver syndrome variant of hereditary spastic paraplegia -: A locus to 4p and allelism with SPG4

A. Orlacchio et al.

NEUROLOGY (2008)

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Article Clinical Neurology

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

L. Samaranch et al.

NEUROLOGY (2008)

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Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum

Qjn Chen et al.

NEUROSCIENCE LETTERS (2008)

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Article Clinical Neurology

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stevanin et al.

BRAIN (2008)

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Article Clinical Neurology

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

Ure Hehr et al.

ANNALS OF NEUROLOGY (2007)

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Article Clinical Neurology

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum

Marcondes C. Franca et al.

MOVEMENT DISORDERS (2007)

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A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation

T. Warnecke et al.

NEUROLOGY (2007)

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Cognitive performance in pure and complicated hereditary spastic paraparesis: a neuropsychological and neuroimaging study

Ingo Uttner et al.

NEUROSCIENCE LETTERS (2007)

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Different regional brain volume loss in pure and complicated hereditary spastic paraparesis: A voxel-based morphometric study

Jan Kassubek et al.

AMYOTROPHIC LATERAL SCLEROSIS (2007)

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Article Clinical Neurology

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

Steffi Dreha-Kulaczewski et al.

NEURORADIOLOGY (2006)

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Brain atrophy in pure and complicated hereditary spastic paraparesis: a quantitative 3D MRI study

J. Kassubek et al.

EUROPEAN JOURNAL OF NEUROLOGY (2006)

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Motor activation in SPG4-linked hereditary spastic paraplegia

Kristin H. Scheuer et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)

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Spastin related hereditary spastic paraplegia with dysplastic corpus callosum

B Alber et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)

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Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

KH Scheuer et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)

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Clinical and genetic study of a large SPG4 Italian family

A Orlacchio et al.

MOVEMENT DISORDERS (2005)

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Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis

AD Sperfeld et al.

EUROPEAN NEUROLOGY (2005)

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Hereditary spastic paraplegia with cerebellar ataxia:: a complex phenotype associated with a new SPG4 gene mutation

JE Nielsen et al.

EUROPEAN JOURNAL OF NEUROLOGY (2004)

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The extent of axonal loss in the long tracts in hereditary spastic paraplegia

GC DeLuca et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2004)

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Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11)

B Winner et al.

ARCHIVES OF NEUROLOGY (2004)

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A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

A Orlacchio et al.

NEUROLOGY (2004)

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Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

MA Simpson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

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Article Clinical Neurology

Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum

S Okubo et al.

ACTA NEUROLOGICA SCANDINAVICA (2000)

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