Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives

Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia

(2018) Xinxin Liao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit

(2018) José Luiz Pedroso et al.   PARKINSONISM & RELATED DISORDERS

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

(2018) Ingrid Faber et al.   NeuroImage-Clinical

SPG11-related parkinsonism: Clinical profile, molecular imaging and l -dopa response

(2018) Ingrid Faber et al.   MOVEMENT DISORDERS

Mutations in DDHD1 , encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation

(2017) Rodolphe Dard et al.   European Journal of Medical Genetics

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later

(2017) Mario Mascalchi et al.   JOURNAL OF NEUROLOGY

Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia

(2017) Arnulf H. Koeppen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Monozygotic twins with a new compound heterozygous SPG11 mutation and different disease expression

(2017) Christiane Schneider-Gold et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing

(2017) Anna Rubegni et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spinal cord grey matter segmentation challenge

(2017) Ferran Prados et al.   NEUROIMAGE

Longitudinal evaluation of cerebral and spinal cord damage in Amyotrophic Lateral Sclerosis

(2017) Milena de Albuquerque et al.   NeuroImage-Clinical

Clinical features and management of hereditary spastic paraplegia

(2017) Ingrid Faber et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56

(2016) M. Masciullo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis

(2016) Hans-Peter Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

(2016) Matthew J. Fraidakis et al.   Neurodegenerative Diseases

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

(2016) Andrea Martinuzzi et al.   PLoS One

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

(2015) Tobias Lindig et al.   JOURNAL OF NEUROLOGY

Fatty acid 2-hydroxylase deficiency: Clinical features and brain iron accumulation

(2015) J. L. Pedroso et al.   NEUROLOGY

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

(2015) Federica Agosta et al.   RADIOLOGY

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

(2015) S. Klebe et al.   REVUE NEUROLOGIQUE

Multimodal MRI-Based Study in Patients with SPG4 Mutations

(2015) Thiago J. R. Rezende et al.   PLoS One

Brain White Matter Involvement in Hereditary Spastic Paraplegias: Analysis with Multiple Diffusion Tensor Indices

(2014) G. Aghakhanyan et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy

(2014) M. de Beer et al.   NEUROLOGY

CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

(2013) P. Roos et al.   ACTA NEUROLOGICA SCANDINAVICA

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

(2013) Kathrin Reetz et al.   BRAIN

Tract-based spatial statistics of diffusion tensor imaging in hereditary spastic paraplegia with thin corpus callosum reveals widespread white matter changes

(2013) Kader Karlı Oguz et al.   Diagnostic and Interventional Radiology

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

(2013) Kathrin N Karle et al.   Orphanet Journal of Rare Diseases

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

(2013) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

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

(2013) Jing Ma et al.   PARKINSONISM & RELATED DISORDERS

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

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism

(2012) Tatsuhiro Terada et al.   ANNALS OF NUCLEAR MEDICINE

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

(2012) Stephan Klebe et al.   BRAIN

White and grey matter abnormalities in patients withSPG11mutations

(2012) Marcondes C França et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2012) T Tomberg et al.   SPINAL CORD

Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis

(2011) Géraldine Androdias et al.   JOURNAL OF NEUROLOGY

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

(2011) Maria Laura Stromillo et al.   JOURNAL OF NEUROLOGY

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

(2011) Antonio Orlacchio et al.   JOURNAL OF NEUROLOGY

Specific pattern of early white-matter changes in pure hereditary spastic paraplegia

(2010) Thomas Duning et al.   MOVEMENT DISORDERS

Incidence and pattern of radiological central nervous system Langerhans cell histiocytosis in children: A population based study

(2010) Evaldas Laurencikas et al.   PEDIATRIC BLOOD & CANCER

Functional changes of the cortical motor system in hereditary spastic paraparesis

(2009) B. Koritnik et al.   ACTA NEUROLOGICA SCANDINAVICA

SPG11mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

(2009) Hanna Örlén et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

(2009) R. Hourani et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

(2009) C Crimella et al.   JOURNAL OF MEDICAL GENETICS

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

(2009) M. Riverol et al.   JOURNAL OF NEUROIMAGING

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

(2009) Chiara Criscuolo et al.   JOURNAL OF NEUROLOGY

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

(2009) C Scuderi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

(2009) K. Svenstrup et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2009) C. Goizet et al.   NEUROLOGY

Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidence

(2009) S. Murphy et al.   NEUROLOGY

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

(2009) Roberta Biancheri et al.   NEUROMUSCULAR DISORDERS

Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations

(2008) A.K. Erichsen et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2008) A. Orlacchio et al.   NEUROLOGY

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

(2008) L. Samaranch et al.   NEUROLOGY