Mark Walterfang

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.

Tatiana Bremova-Ertl, Larry Abel, Mark Walterfang, Ettore Salsano, Anna Ardissone, Věra Malinová, Miriam Kolníková, Jordi Gascón Bayarri, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Yasmina Amraoui, Eugen Mengel, Stefan A Kolb, Andreas Brecht, Stanislavs Bardins, Michael Strupp

Journal article  |  2021  |  Eur J Neurol

OBJECTIVE: To characterize ocular motor function in patients with Niemann-Pick disease type C (NPC). METHODS: In a multicontinenta..

Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography

Theodore Y Lau, Yung Hsiang Kao, HB Toh, Dinesh Sivaratnam, Meir Lichtenstein, Dennis Velakoulis, Mark Walterfang

Journal article  |  2021  |  JOURNAL OF NEUROLOGY

OBJECTIVE: Niemann Pick disease type C (NPC) is a rare progressive neurovisceral lysosomal disorder caused by autosomal recessive ..

Cognitive profiles in patients with epileptic and nonepileptic seizures evaluated using a brief cognitive assessment tool

Roxane Dilcher, Charles B Malpas, Mark Walterfang, Patrick Kwan, Terence J O'Brien, Dennis Velakoulis, Lucy Vivash

Journal article  |  2021  |  EPILEPSY & BEHAVIOR

BACKGROUND: There is a need for the development of brief tools to screen for cognitive impairments in epilepsy patients in order t..

The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study

Nicholas M Burgess, Wendy Kelso, Charles B Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis, Mark Walterfang

Journal article  |  2021  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inherited disorder characterised by a deficiency in phenylalanine hydr..

Neurofilament light chain in psychiatric and neurodegenerative disorders: A ‘c‐reactive protein’ for the brain?

Dhamidhu Eratne, Samantha M Loi, Alexander Santillo, Qiao‐Xin Li, Carolyn Chadunow, Christiane Stehmann, Shorena Janelidze, Charles B Malpas, Nirbaanjot Walia, Shiji Varghese, Kunal Dhiman, Vicki Lewis, Mateo Senesi, Andrew H Evans, Wendy Kelso, Sarah Farrand, Amelia McGlade, Anita MY Goh, Christopher J Fowler, Lucy E Vivash, et al.

Journal article  |  2020  |  Alzheimer's & Dementia

A 10 year retrospective cohort study of inpatients with younger-onset dementia

Samantha M Loi, Dhamidhu Eratne, Anita MY Goh, Pierre Wibawa, Sarah Farrand, Wendy Kelso, Andrew Evans, Rosie Watson, Mark Walterfang, Dennis Velakoulis

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY

OBJECTIVES: Younger-onset dementia (YOD) refers to a dementia where symptom onset occurs when the patient is less than 65 years of..

Clinical Application of Findings From Longitudinal Studies of Younger-Onset Dementia: Rapid Review and Recommendations

Samantha M Loi, Anita MY Goh, Mark Walterfang, Dennis Velakoulis

Journal article  |  2020  |  JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES

Younger-onset dementia (YOD) presents with heterogeneous symptoms, has a variety of etiologies, and can be difficult to diagnose. ..

Time to diagnosis in younger-onset dementia and the impact of a specialist diagnostic service.

Samantha M Loi, Anita MY Goh, Ramon Mocellin, Charles B Malpas, Shaun Parker, Dhamidhu Eratne, Sarah Farrand, Wendy Kelso, Andrew Evans, Mark Walterfang, Dennis Velakoulis

Journal article  |  2020  |  Int Psychogeriatr

OBJECTIVES: While early diagnosis of younger-onset dementia (YOD) is crucial in terms of accessing appropriate services and future..

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report

Sachin Phakey, Thomas Rego, Frank Gaillard, Julie Panetta, Andrew Evans, Gerard De Jong, Mark Walterfang

Journal article  |  2020  |  BMC PSYCHIATRY

BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder resulting in a heterogeneous ..

Neuropsychiatry of neurometabolic, neuroendocrine, and mitochondrial disorders

Mark Walterfang, Ramon Mocellin, Dennis Velakoulis

Book Chapter  |  2020

This chapter examines the role of neurometabolic, neuroendocrine, and mitochondrial disorders in causing neuropsychiatric syndrome..