Childhood-onset hereditary spastic paraplegia and its treatable mimics

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

(2021) Mukhran Khundadze et al.   Autophagy

GCH1 mutations in hereditary spastic paraplegia

(2021) Parizad Varghaei et al.   CLINICAL GENETICS

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes

(2021) Katiane R. Servelhere et al.   MOVEMENT DISORDERS

Expanding the Spectrum of AP5Z1‐ Related Hereditary Spastic Paraplegia ( HSP‐SPG48 ): A Multicenter Study on a Rare Disease

(2021) Marianthi Breza et al.   MOVEMENT DISORDERS

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

(2021) Sonja Neuser et al.   HUMAN MUTATION

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset

(2020) Tessa Wassenberg et al.   PARKINSONISM & RELATED DISORDERS

Expansion of the genetic landscape of ERLIN2 ‐related disorders

(2020) Siddharth Srivastava et al.   Annals of Clinical and Translational Neurology

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

(2020) Cheng‐Ta Chou et al.   Annals of Clinical and Translational Neurology

Biotinidase deficiency

(2020) Florentine Radelfahr et al.   Neurology-Genetics

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

(2020) Sjur Prestsæter et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7

(2020) Marvin Ziegler et al.   Neurology-Genetics

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

(2019) B. Pascual et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five

(2019) Mukhran Khundadze et al.   NEUROBIOLOGY OF DISEASE

Genetic mimics of cerebral palsy

(2019) Toni S. Pearson et al.   MOVEMENT DISORDERS

Novel Insights Into The Clinical And Molecular Spectrum Of Congenital Disorders of Autophagy

(2019) Julian Teinert et al.   JOURNAL OF INHERITED METABOLIC DISEASE

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

(2019) Tim W Rattay et al.   BRAIN

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

(2019) Giulia Coarelli et al.   NEUROLOGY

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

(2019) Francesco Nicita et al.   JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

(2019) Samuel Shribman et al.   LANCET NEUROLOGY

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

(2019) Wen‐Jiao Luo et al.   Molecular Genetics & Genomic Medicine

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

(2019) Robert Behne et al.   HUMAN MOLECULAR GENETICS

Converging cellular themes for the hereditary spastic paraplegias

(2018) Craig Blackstone   CURRENT OPINION IN NEUROBIOLOGY

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review

(2018) Francesco Mari et al.   NEUROGENETICS

“Cerebral Palsy” in a Patient With Arginase Deficiency

(2018) Amanda Jichlinski et al.   Seminars in Pediatric Neurology

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

(2018) Raffaella De Pace et al.   PLoS Genetics

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

(2018) Alexandra K. Davies et al.   Nature Communications

Movement Disorders in Treatable Inborn Errors of Metabolism

(2018) Darius Ebrahimi-Fakhari et al.   MOVEMENT DISORDERS

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

(2017) Gerald Salen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression

(2017) Andrea Mignarri et al.   JOURNAL OF NEUROLOGY

Treatable inherited rare movement disorders

(2017) H. A. Jinnah et al.   MOVEMENT DISORDERS

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

AP-4 mediates export of ATG9A from thetrans-Golgi network to promote autophagosome formation

(2017) Rafael Mattera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

(2015) Karine Choquet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss

(2015) Barry Wolf   MOLECULAR GENETICS AND METABOLISM

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

(2015) Diego Martinelli et al.   Orphanet Journal of Rare Diseases

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

(2014) Viviana Pensato et al.   BRAIN

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

(2014) Jaerak Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

(2014) Andrea Mignarri et al.   JOURNAL OF INHERITED METABOLIC DISEASE

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

(2014) Zheng Fan et al.   JOURNAL OF NEUROLOGY

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

(2014) Shuke Nie et al.   Orphanet Journal of Rare Diseases

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathophysiology of X-linked adrenoleukodystrophy

(2013) J. Berger et al.   BIOCHIMIE

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

(2013) Gaurav V. Harlalka et al.   BRAIN

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia

(2013) Zi-xiong Zhan et al.   European Journal of Medical Genetics

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dopa-Responsive Dystonia Revisited

(2012) Vera Tadic et al.   ARCHIVES OF NEUROLOGY

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

(2012) Koen L. I. van Gassen et al.   BRAIN

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

(2012) Stephan Klebe et al.   BRAIN

Long-term follow-up of four patients affected by HHH syndrome

(2012) Sook Z. Kim et al.   CLINICA CHIMICA ACTA

A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

(2012) Haruo Shimazaki et al.   JOURNAL OF MEDICAL GENETICS

Neurotransmitter abnormalities and response to supplementation in SPG11

(2012) Adeline Vanderver et al.   MOLECULAR GENETICS AND METABOLISM

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Clinical Features and Neurologic Progression of Hyperargininemia

(2012) Daniel R. Carvalho et al.   PEDIATRIC NEUROLOGY

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Clinical issues and frequent questions about biotinidase deficiency

(2010) Barry Wolf   MOLECULAR GENETICS AND METABOLISM

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

(2009) C. Goizet et al.   BRAIN

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

(2009) Rebecca Schüle et al.   JOURNAL OF LIPID RESEARCH

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

(2009) C. Goizet et al.   NEUROLOGY

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

(2008) I. Zoller et al.   JOURNAL OF NEUROSCIENCE