Biomaterial Database

Familial spastic paraplegia. 1989

K Phanthumchinda, and B Somrealvongkul

Familial spastic paraplegia (FSP) was recorded in three families. The pattern of familial transmission and the onset in the second and third decade of life strongly suggested autosomal dominant inheritance. FSP in this series showed the consistent, classical, clinical features with some inconstant findings (nystagmus, dysarthria, posterior column involvement). Baclofen for the treatment of spasticity is beneficial in this condition and genetic counselling should be considered.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D015417	Hereditary Sensory and Motor Neuropathy	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	Dejerine-Sottas Disease,HMSN,HMSN Type III,HMSN Type VII,Hereditary Motor and Sensory Neuropathies,Hereditary, Type III, Motor and Sensory Neuropathy,Hereditary, Type VII, Motor and Sensory Neuropathy,Neuropathies, Hereditary Motor and Sensory,CMT4f,Charcot-Marie-Tooth Disease, Demyelinating, Type 4f,Charcot-Marie-Tooth Disease, Type 3,Dejerine-Sottas Neuropathy,Dejerine-Sottas Syndrome,HMSN3,Herditary Sensory and Motor Neuropathy,Hereditary Motor and Sensory Neuropathy,Hereditary Motor and Sensory Neuropathy 3,Hereditary Motor and Sensory Neuropathy Type III,Hypertrophic Neuropathy of Dejerine-Sottas,Charcot Marie Tooth Disease, Type 3,Dejerine Sottas Disease,Dejerine Sottas Neuropathy,Dejerine Sottas Syndrome,Dejerine-Sottas Hypertrophic Neuropathy,Disease, Dejerine-Sottas,HMSN Type IIIs,HMSN Type VIIs,Hypertrophic Neuropathy of Dejerine Sottas,Neuropathy, Dejerine-Sottas,Syndrome, Dejerine-Sottas,Type VII, HMSN
D015419	Spastic Paraplegia, Hereditary	A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)	Hereditary Spastic Paraplegia,X-Linked, Spastic Paraplegia, Hereditary,Autosomal Dominant Hereditary Spastic Paraplegia,Autosomal Dominant Spastic Paraplegia Hereditary,Autosomal Recessive Hereditary Spastic Paraplegia,Autosomal Recessive Spastic Paraplegia, Hereditary,CMT with Pyramidal Features,Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant,HMSN 5,HMSN Type V,HMSN V,HMSN V (Hereditary Motor and Sensory Neuropathy Type V),Hereditary Autosomal Dominant Spastic Paraplegia,Hereditary Autosomal Recessive Spastic Paraplegia,Hereditary Motor And Sensory Neuropathy V,Hereditary Motor and Sensory Neuropathy 5,Hereditary Motor-Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegia, Autosomal Recessive,Hereditary X-Linked Recessive Spastic Paraplegia,Hereditary, Spastic Paraplegia, Autosomal Dominant,Hereditary, Spastic Paraplegia, X-Linked Recessive,Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia,Paraplegia, Spastic, Hereditary,Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant,Spastic Paraplegia 2,Spastic Paraplegia Type 2,Spastic Paraplegia, Autosomal Dominant, Hereditary,Spastic Paraplegia, Autosomal Recessive, Hereditary,Spastic Paraplegia, Hereditary, Autosomal Dominant,Spastic Paraplegia, Hereditary, Autosomal Recessive,Spastic Paraplegia, Hereditary, X-Linked Recessive,Spastic Paraplegia, X-Linked Recessive, Hereditary,Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy,Type V Hereditary Motor and Sensory Neuropathy,X Linked Recessive Hereditary Spastic Paraplegia,X-linked Recessive Hereditary Spastic Paraplegia,Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant,Hereditary Motor Sensory Neuropathy with Pyramidal Signs,Hereditary Spastic Paraplegias,Hereditary X Linked Recessive Spastic Paraplegia,Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia,Paraplegia, Hereditary Spastic,Paraplegias, Hereditary Spastic,Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy,Spastic Paraplegias, Hereditary,Type V, HMSN