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Spastic paraplegia with associated extrapyramidal signs

MedGen UID:
355815
•Concept ID:
C1866852
•
Disease or Syndrome
Synonym: Spastic Paraplegia With Associated Extrapyramidal Signs
 
Monarch Initiative: MONDO:0008441
OMIM®: 182800

Clinical features

From HPO
Spastic paraplegia
MedGen UID:
20882
•Concept ID:
C0037772
•
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
See: Feature record | Search on this feature
Abnormality of extrapyramidal motor function
MedGen UID:
115941
•Concept ID:
C0234133
•
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Nagappa M, Bindu PS, Sinha S, Mathuranath PS, Taly AB
Clin Neurol Neurosurg 2018 Nov;174:48-56. Epub 2018 Sep 7 doi: 10.1016/j.clineuro.2018.09.012. PMID: 30212743

Recent clinical studies

Etiology

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Galatolo D, Trovato R, Scarlatti A, Rossi S, Natale G, De Michele G, Barghigiani M, Cioffi E, Filla A, Bilancieri G, Casali C, Santorelli FM, Silvestri G, Tessa A
Neurogenetics 2023 Jul;24(3):147-160. Epub 2023 May 3 doi: 10.1007/s10048-023-00717-9. PMID: 37131039
Neural Correlates of Motor Imagery of Gait in Amyotrophic Lateral Sclerosis.
Abidi M, de Marco G, Grami F, Termoz N, Couillandre A, Querin G, Bede P, Pradat PF
J Magn Reson Imaging 2021 Jan;53(1):223-233. Epub 2020 Sep 7 doi: 10.1002/jmri.27335. PMID: 32896088
Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Nagappa M, Bindu PS, Sinha S, Mathuranath PS, Taly AB
Clin Neurol Neurosurg 2018 Nov;174:48-56. Epub 2018 Sep 7 doi: 10.1016/j.clineuro.2018.09.012. PMID: 30212743
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L
Ann Neurol 2016 Apr;79(4):646-58. Epub 2016 Mar 11 doi: 10.1002/ana.24611. PMID: 26856398
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. PMID: 24833714

Diagnosis

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Galatolo D, Trovato R, Scarlatti A, Rossi S, Natale G, De Michele G, Barghigiani M, Cioffi E, Filla A, Bilancieri G, Casali C, Santorelli FM, Silvestri G, Tessa A
Neurogenetics 2023 Jul;24(3):147-160. Epub 2023 May 3 doi: 10.1007/s10048-023-00717-9. PMID: 37131039
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Nagappa M, Bindu PS, Sinha S, Mathuranath PS, Taly AB
Clin Neurol Neurosurg 2018 Nov;174:48-56. Epub 2018 Sep 7 doi: 10.1016/j.clineuro.2018.09.012. PMID: 30212743
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L
Ann Neurol 2016 Apr;79(4):646-58. Epub 2016 Mar 11 doi: 10.1002/ana.24611. PMID: 26856398
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. PMID: 24833714

Therapy

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article

Prognosis

Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Nagappa M, Bindu PS, Sinha S, Mathuranath PS, Taly AB
Clin Neurol Neurosurg 2018 Nov;174:48-56. Epub 2018 Sep 7 doi: 10.1016/j.clineuro.2018.09.012. PMID: 30212743
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L
Ann Neurol 2016 Apr;79(4):646-58. Epub 2016 Mar 11 doi: 10.1002/ana.24611. PMID: 26856398
Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia.
Woehrer A, Laszlo L, Finsterer J, Stöllberger C, Furtner J, Rinner W, Molnar K, Budka H, Kovacs GG
Acta Neuropathol 2012 Oct;124(4):583-91. Epub 2012 Mar 7 doi: 10.1007/s00401-012-0965-9. PMID: 22392442
Sex-linked hereditary ataxic deplegia, the borderland between cerebral palsy and Pelizaeus-Merzbacher disease.
Dunn HG, Thompson MW, Bandler E, Andrews LG
Can J Neurol Sci 1974 Nov;1(4):226-35. doi: 10.1017/s0317167100019818. PMID: 4441987

Clinical prediction guides

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
Brain 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. PMID: 36315648Free PMC Article
Neural Correlates of Motor Imagery of Gait in Amyotrophic Lateral Sclerosis.
Abidi M, de Marco G, Grami F, Termoz N, Couillandre A, Querin G, Bede P, Pradat PF
J Magn Reson Imaging 2021 Jan;53(1):223-233. Epub 2020 Sep 7 doi: 10.1002/jmri.27335. PMID: 32896088
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L
Ann Neurol 2016 Apr;79(4):646-58. Epub 2016 Mar 11 doi: 10.1002/ana.24611. PMID: 26856398
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. PMID: 24833714
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, Zühlke C, Nitschke MF, Brockmann K, Klein C, Rolfs A, Binkofski F
Brain 2006 Sep;129(Pt 9):2341-52. Epub 2006 Jun 7 doi: 10.1093/brain/awl148. PMID: 16760196

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